Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224315T= , CM000679.2:g.7224315T=	GRCh38
NC_000017.10:g.7127634T= , CM000679.1:g.7127634T=	GRCh37
NC_000017.9:g.7068358T=	NCBI36
NG_007975.1:g.9482T=
NG_008391.2:g.736A=
NG_033038.1:g.15230A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1533-6T= MANE Select	ENSP00000349297.5:n.1533-6T=
ENST00000322910.9:c.*1488-6T=	ENSP00000325395.5:n.*1488-6T=
ENST00000350303.9:c.1467-6T=	ENSP00000344152.5:n.1467-6T=
ENST00000356839.9:c.1533-6T=	ENSP00000349297.5:n.1533-6T=
ENST00000542255.6:c.391-6T=
ENST00000543245.6:c.1602-6T=	ENSP00000438689.2:n.1602-6T=
ENST00000578319.5:n.28-6T=
ENST00000578711.1:n.811T=
ENST00000578809.5:n.99T=
ENST00000579391.1:n.141-6T=
ENST00000579425.5:n.649-6T=
ENST00000579546.1:c.272-6T=
ENST00000579894.5:n.320-6T=
ENST00000582450.1:n.35T=
ENST00000583074.5:n.154-6T=
ENST00000583850.5:n.308-6T=
ENST00000583858.5:c.464-6T=
ENST00000585203.6:n.724-6T=
NM_000018.3:c.1533-6T=	NP_000009.1:n.1533-6T=
NM_001033859.2:c.1467-6T=	NP_001029031.1:n.1467-6T=
NM_001270447.1:c.1602-6T=	NP_001257376.1:n.1602-6T=
NM_001270448.1:c.1305-6T=	NP_001257377.1:n.1305-6T=
XM_006721516.2:c.1533-6T=	XP_006721579.2:n.1533-6T=
XM_011523829.1:c.1435-6T=	XP_011522131.1:n.1435-6T=
XM_011523830.1:c.1435-6T=	XP_011522132.1:n.1435-6T=
XR_934021.1:n.1640-6T=
XR_934022.1:n.1542-6T=
XR_934023.1:n.1542-6T=
XM_006721516.3:c.1533-6T=	XP_006721579.2:n.1533-6T=
XM_011523829.2:c.1435-6T=	XP_011522131.1:n.1435-6T=
XM_011523830.2:c.1435-6T=	XP_011522132.1:n.1435-6T=
XM_024450741.1:c.1435-6T=	XP_024306509.1:n.1435-6T=
XR_934021.2:n.1592-6T=
XR_934022.2:n.1494-6T=
XR_934023.2:n.1494-6T=
NM_000018.4:c.1533-6T= MANE Select	NP_000009.1:n.1533-6T=
NM_001033859.3:c.1467-6T=	NP_001029031.1:n.1467-6T=
NM_001270447.2:c.1602-6T=	NP_001257376.1:n.1602-6T=
NM_001270448.2:c.1305-6T=	NP_001257377.1:n.1305-6T=