Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521467C>A , CM000671.2:g.131521467C>A	GRCh38
NC_000009.11:g.134396854C>A , CM000671.1:g.134396854C>A	GRCh37
NC_000009.10:g.133386675C>A	NCBI36
NG_008896.1:g.23566C>A
NG_008896.2:g.23566C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1658C>A	ENSP00000343034.7:p.Pro553His
ENST00000404875.7:n.2360C>A
ENST00000423007.6:c.1877C>A	ENSP00000404119.2:p.Pro626His
ENST00000677295.2:c.*2164C>A	ENSP00000504346.2:n.*2164C>A
ENST00000678264.2:c.*2003C>A	ENSP00000503157.2:n.*2003C>A
ENST00000682070.1:n.2285C>A
ENST00000682813.1:n.2224C>A
ENST00000683392.1:n.4567C>A
ENST00000683712.1:n.2225C>A
ENST00000683900.1:n.3720C>A
ENST00000684062.1:n.2486C>A
ENST00000684579.1:n.3666C>A
ENST00000684679.1:n.1047C>A
ENST00000341012.12:c.1658C>A	ENSP00000343034.7:p.Pro553His
ENST00000372220.5:c.689C>A	ENSP00000361294.5:p.Pro230His
ENST00000372228.9:c.1886C>A	ENSP00000361302.3:p.Pro629His
ENST00000402686.8:c.1820C>A MANE Select	ENSP00000385797.4:p.Pro607His
ENST00000676640.1:c.1820C>A	ENSP00000503281.1:p.Pro607His
ENST00000676803.1:c.881C>A	ENSP00000503093.1:p.Pro294His
ENST00000676835.1:c.*1035C>A	ENSP00000502911.1:n.*1035C>A
ENST00000677029.1:c.1364C>A	ENSP00000502936.1:p.Pro455His
ENST00000677099.1:c.*1530C>A	ENSP00000504553.1:n.*1530C>A
ENST00000677216.1:c.1469C>A	ENSP00000503772.1:p.Pro490His
ENST00000677221.1:n.845C>A
ENST00000677295.1:c.*1197C>A	ENSP00000504346.1:n.*1197C>A
ENST00000677444.1:c.1765C>A
ENST00000677586.1:n.1187C>A
ENST00000677626.1:c.1469C>A	ENSP00000503552.1:p.Pro490His
ENST00000677853.1:c.*828C>A	ENSP00000503488.1:n.*828C>A
ENST00000678202.1:n.979C>A
ENST00000678264.1:c.*1197C>A	ENSP00000503157.1:n.*1197C>A
ENST00000678303.1:c.1730C>A	ENSP00000503696.1:p.Pro577His
ENST00000678366.1:c.*2069C>A	ENSP00000504353.1:n.*2069C>A
ENST00000678546.1:c.*1765C>A	ENSP00000503062.1:n.*1765C>A
ENST00000678548.1:c.*1892C>A	ENSP00000503934.1:n.*1892C>A
ENST00000678626.1:n.1656C>A
ENST00000678739.1:c.*2141C>A	ENSP00000503806.1:n.*2141C>A
ENST00000678833.1:c.*1572C>A	ENSP00000503893.1:n.*1572C>A
ENST00000679023.1:c.1658C>A	ENSP00000503718.1:p.Pro553His
ENST00000679076.1:c.1439C>A
ENST00000679111.1:c.*576C>A	ENSP00000504257.1:n.*576C>A
ENST00000679189.1:c.1469C>A	ENSP00000503356.1:p.Pro490His
ENST00000341012.11:c.1658C>A	ENSP00000343034.7:p.Pro553His
ENST00000372220.4:c.683C>A	ENSP00000361294.4:p.Pro228His
ENST00000372228.7:c.1886C>A	ENSP00000361302.3:p.Pro629His
ENST00000402686.7:c.1820C>A	ENSP00000385797.3:p.Pro607His
ENST00000404875.6:c.1469C>A	ENSP00000384531.2:p.Pro490His
ENST00000423007.5:c.1820C>A	ENSP00000404119.1:p.Pro607His
ENST00000485278.5:n.2370C>A
ENST00000494883.1:n.363C>A
NM_001077365.1:c.1820C>A	NP_001070833.1:p.Pro607His
NM_001077366.1:c.1658C>A	NP_001070834.1:p.Pro553His
NM_001136113.1:c.1820C>A	NP_001129585.1:p.Pro607His
NM_001136114.1:c.1469C>A	NP_001129586.1:p.Pro490His
NM_007171.3:c.1886C>A	NP_009102.3:p.Pro629His
XM_005272156.1:c.1886C>A	XP_005272213.1:p.Pro629His
XM_005272158.1:c.1724C>A	XP_005272215.1:p.Pro575His
XM_005272159.1:c.1535C>A	XP_005272216.1:p.Pro512His
XM_005272162.1:c.689C>A	XP_005272219.1:p.Pro230His
XM_006716932.1:c.1535C>A	XP_006716995.1:p.Pro512His
XM_011518140.1:c.1739C>A	XP_011516442.1:p.Pro580His
XM_011518141.1:c.1673C>A	XP_011516443.1:p.Pro558His
XM_011518142.1:c.1577C>A	XP_011516444.1:p.Pro526His
XM_011518143.1:c.1571C>A	XP_011516445.1:p.Pro524His
XM_011518145.1:c.1430C>A	XP_011516447.1:p.Pro477His
XM_011518147.1:c.758C>A	XP_011516449.1:p.Pro253His
XR_929703.1:n.2062C>A
NM_001353193.1:c.1886C>A	NP_001340122.1:p.Pro629His
NM_001353194.1:c.1658C>A	NP_001340123.1:p.Pro553His
NM_001353195.1:c.1469C>A	NP_001340124.1:p.Pro490His
NM_001353196.1:c.1730C>A	NP_001340125.1:p.Pro577His
NM_001353197.1:c.1724C>A	NP_001340126.1:p.Pro575His
NM_001353198.1:c.1724C>A	NP_001340127.1:p.Pro575His
NM_001353199.1:c.1535C>A	NP_001340128.1:p.Pro512His
NM_001353200.1:c.1364C>A	NP_001340129.1:p.Pro455His
NR_148391.1:n.1870C>A
NR_148392.1:n.2088C>A
NR_148393.1:n.2009C>A
NR_148394.1:n.1763C>A
NR_148395.1:n.2161C>A
NR_148396.1:n.1795C>A
NR_148397.1:n.1920C>A
NR_148398.1:n.1875C>A
NR_148399.1:n.2401C>A
NR_148400.1:n.2000C>A
XM_005272162.3:c.689C>A	XP_005272219.1:p.Pro230His
XM_006716932.2:c.1535C>A	XP_006716995.1:p.Pro512His
XM_011518140.2:c.1739C>A	XP_011516442.1:p.Pro580His
XM_011518141.2:c.1673C>A	XP_011516443.1:p.Pro558His
XM_011518142.2:c.1577C>A	XP_011516444.1:p.Pro526His
XM_011518143.2:c.1571C>A	XP_011516445.1:p.Pro524His
XM_011518145.2:c.1430C>A	XP_011516447.1:p.Pro477His
XM_017014205.2:c.689C>A	XP_016869694.1:p.Pro230His
XM_024447380.1:c.689C>A	XP_024303148.1:p.Pro230His
XM_024447381.1:c.995C>A	XP_024303149.1:p.Pro332His
XM_024447382.1:c.689C>A	XP_024303150.1:p.Pro230His
XR_001746160.2:n.1990C>A
XR_001746162.2:n.2195C>A
XR_001746164.1:n.1912C>A
XR_001746166.2:n.2207C>A
NM_001077365.2:c.1820C>A MANE Select	NP_001070833.1:p.Pro607His
NM_001077366.2:c.1658C>A	NP_001070834.1:p.Pro553His
NM_001136113.2:c.1820C>A	NP_001129585.1:p.Pro607His
NM_001136114.2:c.1469C>A	NP_001129586.1:p.Pro490His
NM_001353193.2:c.1886C>A	NP_001340122.2:p.Pro629His
NM_001353194.2:c.1658C>A	NP_001340123.1:p.Pro553His
NM_001353195.2:c.1469C>A	NP_001340124.1:p.Pro490His
NM_001353196.2:c.1730C>A	NP_001340125.1:p.Pro577His
NM_001353197.2:c.1724C>A	NP_001340126.2:p.Pro575His
NM_001353198.2:c.1724C>A	NP_001340127.2:p.Pro575His
NM_001353199.2:c.1535C>A	NP_001340128.2:p.Pro512His
NM_001353200.2:c.1364C>A	NP_001340129.1:p.Pro455His
NM_001374689.1:c.1808C>A	NP_001361618.1:p.Pro603His
NM_001374690.1:c.1601C>A	NP_001361619.1:p.Pro534His
NM_001374691.1:c.1469C>A	NP_001361620.1:p.Pro490His
NM_001374692.1:c.1469C>A	NP_001361621.1:p.Pro490His
NM_001374693.1:c.1469C>A	NP_001361622.1:p.Pro490His
NM_001374695.1:c.1430C>A	NP_001361624.1:p.Pro477His
NM_007171.4:c.1886C>A	NP_009102.4:p.Pro629His
NR_148391.2:n.1854C>A
NR_148392.2:n.2072C>A
NR_148393.2:n.1993C>A
NR_148394.2:n.1747C>A
NR_148395.2:n.2145C>A
NR_148396.2:n.1779C>A
NR_148397.2:n.1904C>A
NR_148398.2:n.1859C>A
NR_148399.2:n.2385C>A
NR_148400.2:n.1984C>A

Linked Data

Genomic Alleles

Transcript Alleles