Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224744C>A , CM000679.2:g.7224744C>A	GRCh38
NC_000017.10:g.7128063C>A , CM000679.1:g.7128063C>A	GRCh37
NC_000017.9:g.7068787C>A	NCBI36
NG_007975.1:g.9911C>A
NG_008391.2:g.307G>T
NG_033038.1:g.14801G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1751+30C>A MANE Select	ENSP00000349297.5:n.1751+30C>A
ENST00000322910.9:c.*1706+30C>A	ENSP00000325395.5:n.*1706+30C>A
ENST00000350303.9:c.1685+30C>A	ENSP00000344152.5:n.1685+30C>A
ENST00000356839.9:c.1751+30C>A	ENSP00000349297.5:n.1751+30C>A
ENST00000542255.6:c.566C>A
ENST00000543245.6:c.1820+30C>A	ENSP00000438689.2:n.1820+30C>A
ENST00000578033.1:n.112C>A
ENST00000578319.5:n.332+30C>A
ENST00000578711.1:n.1240C>A
ENST00000578809.5:n.323+30C>A
ENST00000579425.5:n.867+30C>A
ENST00000579546.1:c.486+30C>A
ENST00000583074.5:n.329C>A
ENST00000583848.5:c.117+30C>A	ENSP00000466487.1:n.117+30C>A
ENST00000583850.5:n.522+30C>A
ENST00000583858.5:c.682+30C>A
ENST00000585203.6:n.942+30C>A
NM_000018.3:c.1751+30C>A	NP_000009.1:n.1751+30C>A
NM_001033859.2:c.1685+30C>A	NP_001029031.1:n.1685+30C>A
NM_001270447.1:c.1820+30C>A	NP_001257376.1:n.1820+30C>A
NM_001270448.1:c.1523+30C>A	NP_001257377.1:n.1523+30C>A
XM_006721516.2:c.1708C>A	XP_006721579.2:p.Arg570Ser
XM_011523829.1:c.1606C>A	XP_011522131.1:p.Arg536Ser
XM_011523830.1:c.1649+30C>A	XP_011522132.1:n.1649+30C>A
XR_934021.1:n.1854+30C>A
XR_934022.1:n.1760+30C>A
XR_934023.1:n.1717C>A
XM_006721516.3:c.1708C>A	XP_006721579.2:p.Arg570Ser
XM_011523829.2:c.1606C>A	XP_011522131.1:p.Arg536Ser
XM_011523830.2:c.1649+30C>A	XP_011522132.1:n.1649+30C>A
XM_024450741.1:c.1739+30C>A	XP_024306509.1:n.1739+30C>A
XR_934021.2:n.1806+30C>A
XR_934022.2:n.1712+30C>A
XR_934023.2:n.1669C>A
NM_000018.4:c.1751+30C>A MANE Select	NP_000009.1:n.1751+30C>A
NM_001033859.3:c.1685+30C>A	NP_001029031.1:n.1685+30C>A
NM_001270447.2:c.1820+30C>A	NP_001257376.1:n.1820+30C>A
NM_001270448.2:c.1523+30C>A	NP_001257377.1:n.1523+30C>A

Linked Data

Genomic Alleles

Transcript Alleles