Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220198G>A , CM000679.2:g.7220198G>A	GRCh38
NC_000017.10:g.7123517G>A , CM000679.1:g.7123517G>A	GRCh37
NC_000017.9:g.7064241G>A	NCBI36
NG_007975.1:g.5365G>A
NG_008391.2:g.4853C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.138+1G>A MANE Select	ENSP00000349297.5:n.138+1G>A
ENST00000322910.9:c.*93+1G>A	ENSP00000325395.5:n.*93+1G>A
ENST00000350303.9:c.138+1G>A	ENSP00000344152.5:n.138+1G>A
ENST00000356839.9:c.138+1G>A	ENSP00000349297.5:n.138+1G>A
ENST00000543245.6:c.207+1G>A	ENSP00000438689.2:n.207+1G>A
ENST00000577191.5:n.215+1G>A
ENST00000577433.5:n.7G>A
ENST00000577857.5:n.228+1G>A
ENST00000578269.5:n.246G>A
ENST00000578421.1:n.272+1G>A
ENST00000579286.5:n.245+1G>A
ENST00000579886.2:c.138+1G>A	ENSP00000463246.1:n.138+1G>A
ENST00000580263.5:n.228+1G>A
ENST00000581562.5:n.185+1G>A
ENST00000582056.5:n.228+1G>A
ENST00000582356.5:n.263+1G>A
ENST00000583312.5:c.138+1G>A	ENSP00000467920.1:n.138+1G>A
ENST00000584103.5:c.138+1G>A	ENSP00000465353.1:n.138+1G>A
NM_000018.3:c.138+1G>A	NP_000009.1:n.138+1G>A
NM_001033859.2:c.138+1G>A	NP_001029031.1:n.138+1G>A
NM_001270447.1:c.207+1G>A	NP_001257376.1:n.207+1G>A
NM_001270448.1:c.-91+1G>A	NP_001257377.1:n.-91+1G>A
XM_006721516.2:c.138+1G>A	XP_006721579.2:n.138+1G>A
XM_011523829.1:c.138+1G>A	XP_011522131.1:n.138+1G>A
XM_011523830.1:c.138+1G>A	XP_011522132.1:n.138+1G>A
XR_934021.1:n.245+1G>A
XR_934022.1:n.245+1G>A
XR_934023.1:n.245+1G>A
XM_006721516.3:c.138+1G>A	XP_006721579.2:n.138+1G>A
XM_011523829.2:c.138+1G>A	XP_011522131.1:n.138+1G>A
XM_011523830.2:c.138+1G>A	XP_011522132.1:n.138+1G>A
XM_024450741.1:c.138+1G>A	XP_024306509.1:n.138+1G>A
XR_934021.2:n.197+1G>A
XR_934022.2:n.197+1G>A
XR_934023.2:n.197+1G>A
NM_000018.4:c.138+1G>A MANE Select	NP_000009.1:n.138+1G>A
NM_001033859.3:c.138+1G>A	NP_001029031.1:n.138+1G>A
NM_001270447.2:c.207+1G>A	NP_001257376.1:n.207+1G>A
NM_001270448.2:c.-91+1G>A	NP_001257377.1:n.-91+1G>A

Linked Data

Genomic Alleles

Transcript Alleles