Canonical Allele Identifier: CA196751062

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97687096C>G , CM000671.2:g.97687096C>G	GRCh38
NC_000009.11:g.100449378C>G , CM000671.1:g.100449378C>G	GRCh37
NC_000009.10:g.99489199C>G	NCBI36
NG_011642.1:g.15314G>C , LRG_471:g.15314G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.555G>C MANE Select	NP_000371.1:p.Gln185His
ENST00000375128.5:c.555G>C MANE Select	ENSP00000364270.5:p.Gln185His
NM_000380.3:c.555G>C , LRG_471t1:c.555G>C	NP_000371.1:p.Gln185His
NM_001354975.1:c.429G>C	NP_001341904.1:p.Gln143His
NM_001354975.2:c.429G>C	NP_001341904.1:p.Gln143His
NR_027302.1:n.672G>C
NR_027302.2:n.603G>C
NR_149091.1:n.401-2056G>C
NR_149091.2:n.332-2056G>C
NR_149092.1:n.566G>C
NR_149092.2:n.497G>C
NR_149093.1:n.672G>C
NR_149093.2:n.603G>C
NR_149094.1:n.566G>C
NR_149094.2:n.497G>C
ENST00000375128.4:c.555G>C	ENSP00000364270.4:p.Gln185His
ENST00000462523.5:c.555G>C	ENSP00000433006.1:p.Gln185His
ENST00000496104.1:n.349G>C
XM_006717278.1:c.555G>C	XP_006717341.1:p.Gln185His
XM_011518988.1:c.555G>C	XP_011517290.1:p.Gln185His
XR_929839.1:n.666G>C