Canonical Allele Identifier: CA466174819

Gene: XPA

Linked Data

• gnomAD v4: 9-97675526-C-T
• MyVariant Identifiers: chr9:g.100437808C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675526C>T , CM000671.2:g.97675526C>T	GRCh38
NC_000009.11:g.100437808C>T , CM000671.1:g.100437808C>T	GRCh37
NC_000009.10:g.99477629C>T	NCBI36
NG_011642.1:g.26884G>A , LRG_471:g.26884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.735G>A MANE Select	ENSP00000364270.5:p.Glu245=
ENST00000375128.4:c.735G>A	ENSP00000364270.4:p.Glu245=
ENST00000462523.5:c.*171G>A	ENSP00000433006.1:n.*171G>A
ENST00000485042.1:n.247G>A
NM_000380.3:c.735G>A , LRG_471t1:c.735G>A	NP_000371.1:p.Glu245=
NR_027302.1:n.1083G>A
XM_006717278.1:c.735G>A	XP_006717341.1:p.Glu245=
XM_011518988.1:c.735G>A	XP_011517290.1:p.Glu245=
XR_929839.1:n.1266G>A
NM_001354975.1:c.609G>A	NP_001341904.1:p.Glu203=
NR_149091.1:n.580G>A
NR_149092.1:n.746G>A
NR_149093.1:n.1272G>A
NR_149094.1:n.1166G>A
NM_000380.4:c.735G>A MANE Select	NP_000371.1:p.Glu245=
NM_001354975.2:c.609G>A	NP_001341904.1:p.Glu203=
NR_027302.2:n.1014G>A
NR_149091.2:n.511G>A
NR_149092.2:n.677G>A
NR_149093.2:n.1203G>A
NR_149094.2:n.1097G>A