Canonical Allele Identifier: CA374185452

Gene: XPA

Linked Data

• dbSNP Id: rs1295343147
• MyVariant Identifiers: chr9:g.100437815T>G (hg19) ; chr9:g.97675533T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675533T>G , CM000671.2:g.97675533T>G	GRCh38
NC_000009.11:g.100437815T>G , CM000671.1:g.100437815T>G	GRCh37
NC_000009.10:g.99477636T>G	NCBI36
NG_011642.1:g.26877A>C , LRG_471:g.26877A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.728A>C MANE Select	ENSP00000364270.5:p.Gln243Pro
ENST00000375128.4:c.728A>C	ENSP00000364270.4:p.Gln243Pro
ENST00000462523.5:c.*164A>C	ENSP00000433006.1:n.*164A>C
ENST00000485042.1:n.240A>C
NM_000380.3:c.728A>C , LRG_471t1:c.728A>C	NP_000371.1:p.Gln243Pro
NR_027302.1:n.1076A>C
XM_006717278.1:c.728A>C	XP_006717341.1:p.Gln243Pro
XM_011518988.1:c.728A>C	XP_011517290.1:p.Gln243Pro
XR_929839.1:n.1259A>C
NM_001354975.1:c.602A>C	NP_001341904.1:p.Gln201Pro
NR_149091.1:n.573A>C
NR_149092.1:n.739A>C
NR_149093.1:n.1265A>C
NR_149094.1:n.1159A>C
NM_000380.4:c.728A>C MANE Select	NP_000371.1:p.Gln243Pro
NM_001354975.2:c.602A>C	NP_001341904.1:p.Gln201Pro
NR_027302.2:n.1007A>C
NR_149091.2:n.504A>C
NR_149092.2:n.670A>C
NR_149093.2:n.1196A>C
NR_149094.2:n.1090A>C