Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522110T>A , CM000671.2:g.131522110T>A	GRCh38
NC_000009.11:g.134397497T>A , CM000671.1:g.134397497T>A	GRCh37
NC_000009.10:g.133387318T>A	NCBI36
NG_008896.1:g.24209T>A
NG_008896.2:g.24209T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1727T>A	ENSP00000343034.7:p.Leu576His
ENST00000404875.7:n.2429T>A
ENST00000423007.6:c.1946T>A	ENSP00000404119.2:p.Leu649His
ENST00000677295.2:c.*2233T>A	ENSP00000504346.2:n.*2233T>A
ENST00000678264.2:c.*2072T>A	ENSP00000503157.2:n.*2072T>A
ENST00000682070.1:n.2291-92T>A
ENST00000682813.1:n.2293T>A
ENST00000683392.1:n.4573-92T>A
ENST00000683712.1:n.2294T>A
ENST00000683900.1:n.3789T>A
ENST00000684062.1:n.2555T>A
ENST00000684579.1:n.3735T>A
ENST00000684679.1:n.1116T>A
ENST00000341012.12:c.1727T>A	ENSP00000343034.7:p.Leu576His
ENST00000372220.5:c.758T>A	ENSP00000361294.5:p.Leu253His
ENST00000372228.9:c.1955T>A	ENSP00000361302.3:p.Leu652His
ENST00000402686.8:c.1889T>A MANE Select	ENSP00000385797.4:p.Leu630His
ENST00000676640.1:c.1889T>A	ENSP00000503281.1:p.Leu630His
ENST00000676803.1:c.950T>A	ENSP00000503093.1:p.Leu317His
ENST00000676835.1:c.*1104T>A	ENSP00000502911.1:n.*1104T>A
ENST00000677029.1:c.1433T>A	ENSP00000502936.1:p.Leu478His
ENST00000677099.1:c.*1599T>A	ENSP00000504553.1:n.*1599T>A
ENST00000677216.1:c.1538T>A	ENSP00000503772.1:p.Leu513His
ENST00000677221.1:n.914T>A
ENST00000677295.1:c.*1203-92T>A	ENSP00000504346.1:n.*1203-92T>A
ENST00000677444.1:c.1834T>A
ENST00000677586.1:n.1256T>A
ENST00000677626.1:c.1538T>A	ENSP00000503552.1:p.Leu513His
ENST00000677853.1:c.*897T>A	ENSP00000503488.1:n.*897T>A
ENST00000678202.1:n.1048T>A
ENST00000678264.1:c.*1266T>A	ENSP00000503157.1:n.*1266T>A
ENST00000678303.1:c.1799T>A	ENSP00000503696.1:p.Leu600His
ENST00000678366.1:c.*2138T>A	ENSP00000504353.1:n.*2138T>A
ENST00000678546.1:c.*1834T>A	ENSP00000503062.1:n.*1834T>A
ENST00000678548.1:c.*2028T>A	ENSP00000503934.1:n.*2028T>A
ENST00000678626.1:n.1725T>A
ENST00000678739.1:c.*2147-92T>A	ENSP00000503806.1:n.*2147-92T>A
ENST00000678833.1:c.*1641T>A	ENSP00000503893.1:n.*1641T>A
ENST00000679023.1:c.1727T>A	ENSP00000503718.1:p.Leu576His
ENST00000679076.1:c.1508T>A
ENST00000679111.1:c.*645T>A	ENSP00000504257.1:n.*645T>A
ENST00000679189.1:c.1538T>A	ENSP00000503356.1:p.Leu513His
ENST00000341012.11:c.1727T>A	ENSP00000343034.7:p.Leu576His
ENST00000372220.4:c.752T>A	ENSP00000361294.4:p.Leu251His
ENST00000372228.7:c.1955T>A	ENSP00000361302.3:p.Leu652His
ENST00000402686.7:c.1889T>A	ENSP00000385797.3:p.Leu630His
ENST00000404875.6:c.1538T>A	ENSP00000384531.2:p.Leu513His
ENST00000423007.5:c.1889T>A	ENSP00000404119.1:p.Leu630His
ENST00000485278.5:n.2439T>A
ENST00000494883.1:n.432T>A
NM_001077365.1:c.1889T>A	NP_001070833.1:p.Leu630His
NM_001077366.1:c.1727T>A	NP_001070834.1:p.Leu576His
NM_001136113.1:c.1889T>A	NP_001129585.1:p.Leu630His
NM_001136114.1:c.1538T>A	NP_001129586.1:p.Leu513His
NM_007171.3:c.1955T>A	NP_009102.3:p.Leu652His
XM_005272156.1:c.1955T>A	XP_005272213.1:p.Leu652His
XM_005272158.1:c.1793T>A	XP_005272215.1:p.Leu598His
XM_005272159.1:c.1604T>A	XP_005272216.1:p.Leu535His
XM_005272162.1:c.758T>A	XP_005272219.1:p.Leu253His
XM_006716932.1:c.1604T>A	XP_006716995.1:p.Leu535His
XM_011518140.1:c.1808T>A	XP_011516442.1:p.Leu603His
XM_011518141.1:c.1742T>A	XP_011516443.1:p.Leu581His
XM_011518142.1:c.1646T>A	XP_011516444.1:p.Leu549His
XM_011518143.1:c.1640T>A	XP_011516445.1:p.Leu547His
XM_011518145.1:c.1499T>A	XP_011516447.1:p.Leu500His
XM_011518147.1:c.827T>A	XP_011516449.1:p.Leu276His
XR_929703.1:n.2131T>A
NM_001353193.1:c.1955T>A	NP_001340122.1:p.Leu652His
NM_001353194.1:c.1727T>A	NP_001340123.1:p.Leu576His
NM_001353195.1:c.1538T>A	NP_001340124.1:p.Leu513His
NM_001353196.1:c.1799T>A	NP_001340125.1:p.Leu600His
NM_001353197.1:c.1793T>A	NP_001340126.1:p.Leu598His
NM_001353198.1:c.1793T>A	NP_001340127.1:p.Leu598His
NM_001353199.1:c.1604T>A	NP_001340128.1:p.Leu535His
NM_001353200.1:c.1433T>A	NP_001340129.1:p.Leu478His
NR_148391.1:n.1939T>A
NR_148392.1:n.2157T>A
NR_148393.1:n.2078T>A
NR_148394.1:n.1832T>A
NR_148395.1:n.2230T>A
NR_148396.1:n.1864T>A
NR_148397.1:n.1989T>A
NR_148398.1:n.1944T>A
NR_148399.1:n.2470T>A
NR_148400.1:n.2069T>A
XM_005272162.3:c.758T>A	XP_005272219.1:p.Leu253His
XM_006716932.2:c.1604T>A	XP_006716995.1:p.Leu535His
XM_011518140.2:c.1808T>A	XP_011516442.1:p.Leu603His
XM_011518141.2:c.1742T>A	XP_011516443.1:p.Leu581His
XM_011518142.2:c.1646T>A	XP_011516444.1:p.Leu549His
XM_011518143.2:c.1640T>A	XP_011516445.1:p.Leu547His
XM_011518145.2:c.1499T>A	XP_011516447.1:p.Leu500His
XM_017014205.2:c.758T>A	XP_016869694.1:p.Leu253His
XM_024447380.1:c.758T>A	XP_024303148.1:p.Leu253His
XM_024447381.1:c.1064T>A	XP_024303149.1:p.Leu355His
XM_024447382.1:c.758T>A	XP_024303150.1:p.Leu253His
XR_001746160.2:n.2059T>A
XR_001746162.2:n.2264T>A
XR_001746164.1:n.1981T>A
XR_001746166.2:n.2276T>A
NM_001077365.2:c.1889T>A MANE Select	NP_001070833.1:p.Leu630His
NM_001077366.2:c.1727T>A	NP_001070834.1:p.Leu576His
NM_001136113.2:c.1889T>A	NP_001129585.1:p.Leu630His
NM_001136114.2:c.1538T>A	NP_001129586.1:p.Leu513His
NM_001353193.2:c.1955T>A	NP_001340122.2:p.Leu652His
NM_001353194.2:c.1727T>A	NP_001340123.1:p.Leu576His
NM_001353195.2:c.1538T>A	NP_001340124.1:p.Leu513His
NM_001353196.2:c.1799T>A	NP_001340125.1:p.Leu600His
NM_001353197.2:c.1793T>A	NP_001340126.2:p.Leu598His
NM_001353198.2:c.1793T>A	NP_001340127.2:p.Leu598His
NM_001353199.2:c.1604T>A	NP_001340128.2:p.Leu535His
NM_001353200.2:c.1433T>A	NP_001340129.1:p.Leu478His
NM_001374689.1:c.1877T>A	NP_001361618.1:p.Leu626His
NM_001374690.1:c.1670T>A	NP_001361619.1:p.Leu557His
NM_001374691.1:c.1538T>A	NP_001361620.1:p.Leu513His
NM_001374692.1:c.1538T>A	NP_001361621.1:p.Leu513His
NM_001374693.1:c.1538T>A	NP_001361622.1:p.Leu513His
NM_001374695.1:c.1499T>A	NP_001361624.1:p.Leu500His
NM_007171.4:c.1955T>A	NP_009102.4:p.Leu652His
NR_148391.2:n.1923T>A
NR_148392.2:n.2141T>A
NR_148393.2:n.2062T>A
NR_148394.2:n.1816T>A
NR_148395.2:n.2214T>A
NR_148396.2:n.1848T>A
NR_148397.2:n.1973T>A
NR_148398.2:n.1928T>A
NR_148399.2:n.2454T>A
NR_148400.2:n.2053T>A

Linked Data

Genomic Alleles

Transcript Alleles