Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224302T>A , CM000679.2:g.7224302T>A	GRCh38
NC_000017.10:g.7127621T>A , CM000679.1:g.7127621T>A	GRCh37
NC_000017.9:g.7068345T>A	NCBI36
NG_007975.1:g.9469T>A
NG_008391.2:g.749A>T
NG_033038.1:g.15243A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1533-19T>A MANE Select	ENSP00000349297.5:n.1533-19T>A
ENST00000322910.9:c.*1488-19T>A	ENSP00000325395.5:n.*1488-19T>A
ENST00000350303.9:c.1467-19T>A	ENSP00000344152.5:n.1467-19T>A
ENST00000356839.9:c.1533-19T>A	ENSP00000349297.5:n.1533-19T>A
ENST00000542255.6:c.391-19T>A
ENST00000543245.6:c.1602-19T>A	ENSP00000438689.2:n.1602-19T>A
ENST00000578319.5:n.28-19T>A
ENST00000578711.1:n.798T>A
ENST00000578809.5:n.86T>A
ENST00000579391.1:n.141-19T>A
ENST00000579425.5:n.649-19T>A
ENST00000579546.1:c.272-19T>A
ENST00000579894.5:n.320-19T>A
ENST00000582450.1:n.22T>A
ENST00000583074.5:n.154-19T>A
ENST00000583850.5:n.308-19T>A
ENST00000583858.5:c.464-19T>A
ENST00000585203.6:n.724-19T>A
NM_000018.3:c.1533-19T>A	NP_000009.1:n.1533-19T>A
NM_001033859.2:c.1467-19T>A	NP_001029031.1:n.1467-19T>A
NM_001270447.1:c.1602-19T>A	NP_001257376.1:n.1602-19T>A
NM_001270448.1:c.1305-19T>A	NP_001257377.1:n.1305-19T>A
XM_006721516.2:c.1533-19T>A	XP_006721579.2:n.1533-19T>A
XM_011523829.1:c.1435-19T>A	XP_011522131.1:n.1435-19T>A
XM_011523830.1:c.1435-19T>A	XP_011522132.1:n.1435-19T>A
XR_934021.1:n.1640-19T>A
XR_934022.1:n.1542-19T>A
XR_934023.1:n.1542-19T>A
XM_006721516.3:c.1533-19T>A	XP_006721579.2:n.1533-19T>A
XM_011523829.2:c.1435-19T>A	XP_011522131.1:n.1435-19T>A
XM_011523830.2:c.1435-19T>A	XP_011522132.1:n.1435-19T>A
XM_024450741.1:c.1435-19T>A	XP_024306509.1:n.1435-19T>A
XR_934021.2:n.1592-19T>A
XR_934022.2:n.1494-19T>A
XR_934023.2:n.1494-19T>A
NM_000018.4:c.1533-19T>A MANE Select	NP_000009.1:n.1533-19T>A
NM_001033859.3:c.1467-19T>A	NP_001029031.1:n.1467-19T>A
NM_001270447.2:c.1602-19T>A	NP_001257376.1:n.1602-19T>A
NM_001270448.2:c.1305-19T>A	NP_001257377.1:n.1305-19T>A