Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131511478G>A , CM000671.2:g.131511478G>A	GRCh38
NC_000009.11:g.134386865G>A , CM000671.1:g.134386865G>A	GRCh37
NC_000009.10:g.133376686G>A	NCBI36
NG_008896.1:g.13577G>A
NG_008896.2:g.13577G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.824+11G>A	ENSP00000343034.7:n.824+11G>A
ENST00000404875.7:n.1358+11G>A
ENST00000423007.6:c.1043+11G>A	ENSP00000404119.2:n.1043+11G>A
ENST00000677295.2:c.*1330+6G>A	ENSP00000504346.2:n.*1330+6G>A
ENST00000678264.2:c.*1169+11G>A	ENSP00000503157.2:n.*1169+11G>A
ENST00000678942.2:c.*539+11G>A	ENSP00000504690.2:n.*539+11G>A
ENST00000682070.1:n.1451+6G>A
ENST00000682813.1:n.1251+11G>A
ENST00000683392.1:n.3733+11G>A
ENST00000683712.1:n.1391+6G>A
ENST00000683900.1:n.2324G>A
ENST00000684062.1:n.1652+11G>A
ENST00000684579.1:n.2832+6G>A
ENST00000341012.12:c.824+11G>A	ENSP00000343034.7:n.824+11G>A
ENST00000372220.5:c.-145-563G>A	ENSP00000361294.5:n.-145-563G>A
ENST00000372228.9:c.1052+11G>A	ENSP00000361302.3:n.1052+11G>A
ENST00000402686.8:c.986+11G>A MANE Select	ENSP00000385797.4:n.986+11G>A
ENST00000415075.6:c.*444+6G>A	ENSP00000405149.2:n.*444+6G>A
ENST00000676640.1:c.986+11G>A	ENSP00000503281.1:n.986+11G>A
ENST00000676803.1:c.161+11G>A	ENSP00000503093.1:n.161+11G>A
ENST00000676835.1:c.*201+6G>A	ENSP00000502911.1:n.*201+6G>A
ENST00000677029.1:c.530+11G>A	ENSP00000502936.1:n.530+11G>A
ENST00000677099.1:c.*696+11G>A	ENSP00000504553.1:n.*696+11G>A
ENST00000677216.1:c.635+11G>A	ENSP00000503772.1:n.635+11G>A
ENST00000677293.1:c.161+11G>A	ENSP00000504278.1:n.161+11G>A
ENST00000677295.1:c.*363+6G>A	ENSP00000504346.1:n.*363+6G>A
ENST00000677444.1:c.792+11G>A
ENST00000677586.1:n.467+11G>A
ENST00000677626.1:c.824+11G>A	ENSP00000503552.1:n.824+11G>A
ENST00000677677.1:n.946+11G>A
ENST00000677853.1:c.567+11G>A	ENSP00000503488.1:n.567+11G>A
ENST00000677944.1:c.248+11G>A
ENST00000678264.1:c.*363+6G>A	ENSP00000503157.1:n.*363+6G>A
ENST00000678303.1:c.896+11G>A	ENSP00000503696.1:n.896+11G>A
ENST00000678366.1:c.*1235+11G>A	ENSP00000504353.1:n.*1235+11G>A
ENST00000678546.1:c.*369G>A	ENSP00000503062.1:n.*369G>A
ENST00000678548.1:c.*1058+6G>A	ENSP00000503934.1:n.*1058+6G>A
ENST00000678626.1:n.683+6G>A
ENST00000678733.1:c.160+11G>A
ENST00000678739.1:c.*1312+6G>A	ENSP00000503806.1:n.*1312+6G>A
ENST00000678833.1:c.*433+11G>A	ENSP00000503893.1:n.*433+11G>A
ENST00000678942.1:c.166+6G>A	ENSP00000504690.1:n.166+6G>A
ENST00000679023.1:c.824+11G>A	ENSP00000503718.1:n.824+11G>A
ENST00000679073.1:c.364+11G>A	ENSP00000504356.1:n.364+11G>A
ENST00000679076.1:c.605+6G>A
ENST00000679111.1:c.986+11G>A	ENSP00000504257.1:n.986+11G>A
ENST00000679189.1:c.635+11G>A	ENSP00000503356.1:n.635+11G>A
ENST00000341012.11:c.824+11G>A	ENSP00000343034.7:n.824+11G>A
ENST00000372228.7:c.1052+11G>A	ENSP00000361302.3:n.1052+11G>A
ENST00000402686.7:c.986+11G>A	ENSP00000385797.3:n.986+11G>A
ENST00000404875.6:c.635+11G>A	ENSP00000384531.2:n.635+11G>A
ENST00000415075.5:c.383+6G>A	ENSP00000405149.1:n.383+6G>A
ENST00000423007.5:c.986+11G>A	ENSP00000404119.1:n.986+11G>A
ENST00000441334.5:c.701+11G>A	ENSP00000395060.1:n.701+11G>A
ENST00000462375.5:n.812+6G>A
ENST00000485278.5:n.979G>A
NM_001077365.1:c.986+11G>A	NP_001070833.1:n.986+11G>A
NM_001077366.1:c.824+11G>A	NP_001070834.1:n.824+11G>A
NM_001136113.1:c.986+11G>A	NP_001129585.1:n.986+11G>A
NM_001136114.1:c.635+11G>A	NP_001129586.1:n.635+11G>A
NM_007171.3:c.1052+11G>A	NP_009102.3:n.1052+11G>A
XM_005272156.1:c.1052+11G>A	XP_005272213.1:n.1052+11G>A
XM_005272158.1:c.890+11G>A	XP_005272215.1:n.890+11G>A
XM_005272159.1:c.701+11G>A	XP_005272216.1:n.701+11G>A
XM_005272162.1:c.-146+6G>A	XP_005272219.1:n.-146+6G>A
XM_006716932.1:c.701+11G>A	XP_006716995.1:n.701+11G>A
XM_011518140.1:c.905+11G>A	XP_011516442.1:n.905+11G>A
XM_011518141.1:c.839+11G>A	XP_011516443.1:n.839+11G>A
XM_011518142.1:c.743+11G>A	XP_011516444.1:n.743+11G>A
XM_011518143.1:c.737+6G>A	XP_011516445.1:n.737+6G>A
XM_011518144.1:c.1052+11G>A	XP_011516446.1:n.1052+11G>A
XM_011518145.1:c.596+11G>A	XP_011516447.1:n.596+11G>A
XM_011518146.1:c.737+6G>A	XP_011516448.1:n.737+6G>A
XR_929703.1:n.1228+11G>A
NM_001353193.1:c.1052+11G>A	NP_001340122.1:n.1052+11G>A
NM_001353194.1:c.824+11G>A	NP_001340123.1:n.824+11G>A
NM_001353195.1:c.635+11G>A	NP_001340124.1:n.635+11G>A
NM_001353196.1:c.896+11G>A	NP_001340125.1:n.896+11G>A
NM_001353197.1:c.890+11G>A	NP_001340126.1:n.890+11G>A
NM_001353198.1:c.890+11G>A	NP_001340127.1:n.890+11G>A
NM_001353199.1:c.701+11G>A	NP_001340128.1:n.701+11G>A
NM_001353200.1:c.530+11G>A	NP_001340129.1:n.530+11G>A
NR_148391.1:n.1036+11G>A
NR_148392.1:n.1254+11G>A
NR_148393.1:n.1036+11G>A
NR_148394.1:n.929+6G>A
NR_148395.1:n.1188+11G>A
NR_148396.1:n.822+6G>A
NR_148397.1:n.1086+6G>A
NR_148398.1:n.1041+6G>A
NR_148399.1:n.1428+11G>A
NR_148400.1:n.1027+6G>A
XM_005272162.3:c.-146+6G>A	XP_005272219.1:n.-146+6G>A
XM_006716932.2:c.701+11G>A	XP_006716995.1:n.701+11G>A
XM_011518140.2:c.905+11G>A	XP_011516442.1:n.905+11G>A
XM_011518141.2:c.839+11G>A	XP_011516443.1:n.839+11G>A
XM_011518142.2:c.743+11G>A	XP_011516444.1:n.743+11G>A
XM_011518143.2:c.737+6G>A	XP_011516445.1:n.737+6G>A
XM_011518145.2:c.596+11G>A	XP_011516447.1:n.596+11G>A
XM_017014205.2:c.-146+6G>A	XP_016869694.1:n.-146+6G>A
XM_024447380.1:c.-146+6G>A	XP_024303148.1:n.-146+6G>A
XM_024447381.1:c.161+11G>A	XP_024303149.1:n.161+11G>A
XM_024447382.1:c.-146+6G>A	XP_024303150.1:n.-146+6G>A
XR_001746160.2:n.1156+11G>A
XR_001746162.2:n.1222+11G>A
XR_001746164.1:n.939+6G>A
XR_001746166.2:n.1373+11G>A
NM_001077365.2:c.986+11G>A MANE Select	NP_001070833.1:n.986+11G>A
NM_001077366.2:c.824+11G>A	NP_001070834.1:n.824+11G>A
NM_001136113.2:c.986+11G>A	NP_001129585.1:n.986+11G>A
NM_001136114.2:c.635+11G>A	NP_001129586.1:n.635+11G>A
NM_001353193.2:c.1052+11G>A	NP_001340122.2:n.1052+11G>A
NM_001353194.2:c.824+11G>A	NP_001340123.1:n.824+11G>A
NM_001353195.2:c.635+11G>A	NP_001340124.1:n.635+11G>A
NM_001353196.2:c.896+11G>A	NP_001340125.1:n.896+11G>A
NM_001353197.2:c.890+11G>A	NP_001340126.2:n.890+11G>A
NM_001353198.2:c.890+11G>A	NP_001340127.2:n.890+11G>A
NM_001353199.2:c.701+11G>A	NP_001340128.2:n.701+11G>A
NM_001353200.2:c.530+11G>A	NP_001340129.1:n.530+11G>A
NM_001374689.1:c.974+6G>A	NP_001361618.1:n.974+6G>A
NM_001374690.1:c.986+11G>A	NP_001361619.1:n.986+11G>A
NM_001374691.1:c.635+11G>A	NP_001361620.1:n.635+11G>A
NM_001374692.1:c.635+11G>A	NP_001361621.1:n.635+11G>A
NM_001374693.1:c.824+11G>A	NP_001361622.1:n.824+11G>A
NM_001374695.1:c.596+11G>A	NP_001361624.1:n.596+11G>A
NM_007171.4:c.1052+11G>A	NP_009102.4:n.1052+11G>A
NR_148391.2:n.1020+11G>A
NR_148392.2:n.1238+11G>A
NR_148393.2:n.1020+11G>A
NR_148394.2:n.913+6G>A
NR_148395.2:n.1172+11G>A
NR_148396.2:n.806+6G>A
NR_148397.2:n.1070+6G>A
NR_148398.2:n.1025+6G>A
NR_148399.2:n.1412+11G>A
NR_148400.2:n.1011+6G>A

Linked Data

Genomic Alleles

Transcript Alleles