Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67448217T>A , CM000672.2:g.67448217T>A	GRCh38
NC_000010.10:g.69207975T>A , CM000672.1:g.69207975T>A	GRCh37
NC_000010.9:g.68877981T>A	NCBI36
NG_034072.1:g.252975A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545309.3:c.*275+73625A>T	ENSP00000441444.3:n.*275+73625A>T
ENST00000682166.1:c.*275+73625A>T	ENSP00000507319.1:n.*275+73625A>T
ENST00000682758.1:c.579+73625A>T	ENSP00000508047.1:n.579+73625A>T
ENST00000682945.1:c.579+73625A>T	ENSP00000506843.1:n.579+73625A>T
ENST00000683272.1:n.773+73625A>T
ENST00000683624.1:c.*275+73625A>T	ENSP00000507406.1:n.*275+73625A>T
ENST00000683630.1:n.773+73625A>T
ENST00000683963.1:c.*103+73625A>T	ENSP00000507029.1:n.*103+73625A>T
ENST00000684154.1:c.579+73625A>T	ENSP00000508371.1:n.579+73625A>T
ENST00000433211.7:c.579+73625A>T MANE Select	ENSP00000389714.1:n.579+73625A>T
ENST00000433211.6:c.579+73625A>T	ENSP00000389714.1:n.579+73625A>T
NM_001127384.2:c.579+73625A>T	NP_001120856.1:n.579+73625A>T
NM_001291133.1:c.615+73625A>T	NP_001278062.1:n.615+73625A>T
NM_013266.3:c.579+73625A>T	NP_037398.2:n.579+73625A>T
XM_005269717.2:c.615+73625A>T	XP_005269774.1:n.615+73625A>T
XM_011539721.1:c.615+73625A>T	XP_011538023.1:n.615+73625A>T
XM_011539722.1:c.615+73625A>T	XP_011538024.1:n.615+73625A>T
XM_011539723.1:c.579+73625A>T	XP_011538025.1:n.579+73625A>T
XM_011539724.1:c.579+73625A>T	XP_011538026.1:n.579+73625A>T
XM_011539725.1:c.579+73625A>T	XP_011538027.1:n.579+73625A>T
XM_011539726.1:c.615+73625A>T	XP_011538028.1:n.615+73625A>T
XM_011539727.1:c.579+73625A>T	XP_011538029.1:n.579+73625A>T
XM_017016151.1:c.579+73625A>T	XP_016871640.1:n.579+73625A>T
XM_017016152.1:c.615+73625A>T	XP_016871641.1:n.615+73625A>T
XM_017016153.1:c.615+73625A>T	XP_016871642.1:n.615+73625A>T
XM_017016158.2:c.615+73625A>T	XP_016871647.1:n.615+73625A>T
NM_013266.4:c.579+73625A>T MANE Select	NP_037398.2:n.579+73625A>T
NM_001291133.2:c.615+73625A>T	NP_001278062.1:n.615+73625A>T
NM_001127384.3:c.579+73625A>T	NP_001120856.1:n.579+73625A>T