Canonical Allele Identifier: CA374187932

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97693649C>G , CM000671.2:g.97693649C>G	GRCh38
NC_000009.11:g.100455931C>G , CM000671.1:g.100455931C>G	GRCh37
NC_000009.10:g.99495752C>G	NCBI36
NG_011642.1:g.8761G>C , LRG_471:g.8761G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.283G>C MANE Select	NP_000371.1:p.Gly95Arg
ENST00000375128.5:c.283G>C MANE Select	ENSP00000364270.5:p.Gly95Arg
NM_000380.3:c.283G>C , LRG_471t1:c.283G>C	NP_000371.1:p.Gly95Arg
NM_001354975.1:c.157G>C	NP_001341904.1:p.Gly53Arg
NM_001354975.2:c.157G>C	NP_001341904.1:p.Gly53Arg
NR_027302.1:n.400G>C
NR_027302.2:n.331G>C
NR_149091.1:n.400G>C
NR_149091.2:n.331G>C
NR_149092.1:n.400G>C
NR_149092.2:n.331G>C
NR_149093.1:n.400G>C
NR_149093.2:n.331G>C
NR_149094.1:n.400G>C
NR_149094.2:n.331G>C
ENST00000375128.4:c.283G>C	ENSP00000364270.4:p.Gly95Arg
ENST00000462523.5:c.283G>C	ENSP00000433006.1:p.Gly95Arg
ENST00000496104.1:n.183G>C
XM_006717278.1:c.283G>C	XP_006717341.1:p.Gly95Arg
XM_011518988.1:c.283G>C	XP_011517290.1:p.Gly95Arg
XR_929839.1:n.394G>C