Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221699A>T , CM000679.2:g.7221699A>T	GRCh38
NC_000017.10:g.7125018A>T , CM000679.1:g.7125018A>T	GRCh37
NC_000017.9:g.7065742A>T	NCBI36
NG_007975.1:g.6866A>T
NG_008391.2:g.3352T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.622+17A>T MANE Select	ENSP00000349297.5:n.622+17A>T
ENST00000322910.9:c.*577+17A>T	ENSP00000325395.5:n.*577+17A>T
ENST00000350303.9:c.556+17A>T	ENSP00000344152.5:n.556+17A>T
ENST00000356839.9:c.622+17A>T	ENSP00000349297.5:n.622+17A>T
ENST00000543245.6:c.691+17A>T	ENSP00000438689.2:n.691+17A>T
ENST00000577191.5:n.699+17A>T
ENST00000577857.5:n.438+17A>T
ENST00000579286.5:n.803+17A>T
ENST00000579886.2:c.460+17A>T	ENSP00000463246.1:n.460+17A>T
ENST00000580365.1:n.353+17A>T
ENST00000581378.5:c.340+17A>T
ENST00000581562.5:n.525-253A>T
ENST00000583312.5:c.622+17A>T	ENSP00000467920.1:n.622+17A>T
ENST00000583760.1:n.404+17A>T
NM_000018.3:c.622+17A>T	NP_000009.1:n.622+17A>T
NM_001033859.2:c.556+17A>T	NP_001029031.1:n.556+17A>T
NM_001270447.1:c.691+17A>T	NP_001257376.1:n.691+17A>T
NM_001270448.1:c.394+17A>T	NP_001257377.1:n.394+17A>T
XM_006721516.2:c.622+17A>T	XP_006721579.2:n.622+17A>T
XM_011523829.1:c.622+17A>T	XP_011522131.1:n.622+17A>T
XM_011523830.1:c.622+17A>T	XP_011522132.1:n.622+17A>T
XR_934021.1:n.729+17A>T
XR_934022.1:n.729+17A>T
XR_934023.1:n.729+17A>T
XM_006721516.3:c.622+17A>T	XP_006721579.2:n.622+17A>T
XM_011523829.2:c.622+17A>T	XP_011522131.1:n.622+17A>T
XM_011523830.2:c.622+17A>T	XP_011522132.1:n.622+17A>T
XM_024450741.1:c.622+17A>T	XP_024306509.1:n.622+17A>T
XR_934021.2:n.681+17A>T
XR_934022.2:n.681+17A>T
XR_934023.2:n.681+17A>T
NM_000018.4:c.622+17A>T MANE Select	NP_000009.1:n.622+17A>T
NM_001033859.3:c.556+17A>T	NP_001029031.1:n.556+17A>T
NM_001270447.2:c.691+17A>T	NP_001257376.1:n.691+17A>T
NM_001270448.2:c.394+17A>T	NP_001257377.1:n.394+17A>T