Canonical Allele Identifier: CA374185450

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437814T>G (hg19) ; chr9:g.97675532T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675532T>G , CM000671.2:g.97675532T>G	GRCh38
NC_000009.11:g.100437814T>G , CM000671.1:g.100437814T>G	GRCh37
NC_000009.10:g.99477635T>G	NCBI36
NG_011642.1:g.26878A>C , LRG_471:g.26878A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.729A>C MANE Select	ENSP00000364270.5:p.Gln243His
ENST00000375128.4:c.729A>C	ENSP00000364270.4:p.Gln243His
ENST00000462523.5:c.*165A>C	ENSP00000433006.1:n.*165A>C
ENST00000485042.1:n.241A>C
NM_000380.3:c.729A>C , LRG_471t1:c.729A>C	NP_000371.1:p.Gln243His
NR_027302.1:n.1077A>C
XM_006717278.1:c.729A>C	XP_006717341.1:p.Gln243His
XM_011518988.1:c.729A>C	XP_011517290.1:p.Gln243His
XR_929839.1:n.1260A>C
NM_001354975.1:c.603A>C	NP_001341904.1:p.Gln201His
NR_149091.1:n.574A>C
NR_149092.1:n.740A>C
NR_149093.1:n.1266A>C
NR_149094.1:n.1160A>C
NM_000380.4:c.729A>C MANE Select	NP_000371.1:p.Gln243His
NM_001354975.2:c.603A>C	NP_001341904.1:p.Gln201His
NR_027302.2:n.1008A>C
NR_149091.2:n.505A>C
NR_149092.2:n.671A>C
NR_149093.2:n.1197A>C
NR_149094.2:n.1091A>C