Canonical Allele Identifier: CA374185426

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437804C>G (hg19) ; chr9:g.97675522C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675522C>G , CM000671.2:g.97675522C>G	GRCh38
NC_000009.11:g.100437804C>G , CM000671.1:g.100437804C>G	GRCh37
NC_000009.10:g.99477625C>G	NCBI36
NG_011642.1:g.26888G>C , LRG_471:g.26888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.739G>C MANE Select	ENSP00000364270.5:p.Gly247Arg
ENST00000375128.4:c.739G>C	ENSP00000364270.4:p.Gly247Arg
ENST00000462523.5:c.*175G>C	ENSP00000433006.1:n.*175G>C
ENST00000485042.1:n.251G>C
NM_000380.3:c.739G>C , LRG_471t1:c.739G>C	NP_000371.1:p.Gly247Arg
NR_027302.1:n.1087G>C
XM_006717278.1:c.739G>C	XP_006717341.1:p.Gly247Arg
XM_011518988.1:c.739G>C	XP_011517290.1:p.Gly247Arg
XR_929839.1:n.1270G>C
NM_001354975.1:c.613G>C	NP_001341904.1:p.Gly205Arg
NR_149091.1:n.584G>C
NR_149092.1:n.750G>C
NR_149093.1:n.1276G>C
NR_149094.1:n.1170G>C
NM_000380.4:c.739G>C MANE Select	NP_000371.1:p.Gly247Arg
NM_001354975.2:c.613G>C	NP_001341904.1:p.Gly205Arg
NR_027302.2:n.1018G>C
NR_149091.2:n.515G>C
NR_149092.2:n.681G>C
NR_149093.2:n.1207G>C
NR_149094.2:n.1101G>C