Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224504G>A , CM000679.2:g.7224504G>A	GRCh38
NC_000017.10:g.7127823G>A , CM000679.1:g.7127823G>A	GRCh37
NC_000017.9:g.7068547G>A	NCBI36
NG_007975.1:g.9671G>A
NG_008391.2:g.547C>T
NG_033038.1:g.15041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1630G>A MANE Select	ENSP00000349297.5:p.Ala544Thr
ENST00000322910.9:c.*1585G>A	ENSP00000325395.5:n.*1585G>A
ENST00000350303.9:c.1564G>A	ENSP00000344152.5:p.Ala522Thr
ENST00000356839.9:c.1630G>A	ENSP00000349297.5:p.Ala544Thr
ENST00000542255.6:c.488G>A
ENST00000543245.6:c.1699G>A	ENSP00000438689.2:p.Ala567Thr
ENST00000578319.5:n.211G>A
ENST00000578711.1:n.1000G>A
ENST00000578809.5:n.202G>A
ENST00000579391.1:n.234G>A
ENST00000579425.5:n.746G>A
ENST00000579546.1:c.365G>A
ENST00000579894.5:n.417G>A
ENST00000582450.1:n.138G>A
ENST00000583074.5:n.251G>A
ENST00000583848.5:c.16G>A	ENSP00000466487.1:p.Ala6Thr
ENST00000583850.5:n.401G>A
ENST00000583858.5:c.561G>A
ENST00000585203.6:n.821G>A
NM_000018.3:c.1630G>A	NP_000009.1:p.Ala544Thr
NM_001033859.2:c.1564G>A	NP_001029031.1:p.Ala522Thr
NM_001270447.1:c.1699G>A	NP_001257376.1:p.Ala567Thr
NM_001270448.1:c.1402G>A	NP_001257377.1:p.Ala468Thr
XM_006721516.2:c.1630G>A	XP_006721579.2:p.Ala544Thr
XM_011523829.1:c.1528G>A	XP_011522131.1:p.Ala510Thr
XM_011523830.1:c.1528G>A	XP_011522132.1:p.Ala510Thr
XR_934021.1:n.1733G>A
XR_934022.1:n.1639G>A
XR_934023.1:n.1639G>A
XM_006721516.3:c.1630G>A	XP_006721579.2:p.Ala544Thr
XM_011523829.2:c.1528G>A	XP_011522131.1:p.Ala510Thr
XM_011523830.2:c.1528G>A	XP_011522132.1:p.Ala510Thr
XM_024450741.1:c.1618G>A	XP_024306509.1:p.Ala540Thr
XR_934021.2:n.1685G>A
XR_934022.2:n.1591G>A
XR_934023.2:n.1591G>A
NM_000018.4:c.1630G>A MANE Select	NP_000009.1:p.Ala544Thr
NM_001033859.3:c.1564G>A	NP_001029031.1:p.Ala522Thr
NM_001270447.2:c.1699G>A	NP_001257376.1:p.Ala567Thr
NM_001270448.2:c.1402G>A	NP_001257377.1:p.Ala468Thr

Linked Data

Genomic Alleles

Transcript Alleles