Canonical Allele Identifier: CA466174821

Gene: XPA

Linked Data

• ClinVar Variation Id: 1609636
• ClinVar RCV Id: RCV002152567
• dbSNP Id: rs2131379118
• MyVariant Identifiers: chr9:g.100437814T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.729A>G MANE Select	ENSP00000364270.5:p.Gln243=
ENST00000375128.4:c.729A>G	ENSP00000364270.4:p.Gln243=
ENST00000462523.5:c.*165A>G	ENSP00000433006.1:n.*165A>G
ENST00000485042.1:n.241A>G
NM_000380.3:c.729A>G , LRG_471t1:c.729A>G	NP_000371.1:p.Gln243=
NR_027302.1:n.1077A>G
XM_006717278.1:c.729A>G	XP_006717341.1:p.Gln243=
XM_011518988.1:c.729A>G	XP_011517290.1:p.Gln243=
XR_929839.1:n.1260A>G
NM_001354975.1:c.603A>G	NP_001341904.1:p.Gln201=
NR_149091.1:n.574A>G
NR_149092.1:n.740A>G
NR_149093.1:n.1266A>G
NR_149094.1:n.1160A>G
NM_000380.4:c.729A>G MANE Select	NP_000371.1:p.Gln243=
NM_001354975.2:c.603A>G	NP_001341904.1:p.Gln201=
NR_027302.2:n.1008A>G
NR_149091.2:n.505A>G
NR_149092.2:n.671A>G
NR_149093.2:n.1197A>G
NR_149094.2:n.1091A>G