Canonical Allele Identifier: CA5148665

Gene: XPA

Linked Data

• dbSNP Id: rs781364012
• ExAC: 9:100437723 A / G
• gnomAD v2: 9-100437723-A-G
• gnomAD v4: 9-97675441-A-G
• MyVariant Identifiers: chr9:g.100437723A>G (hg19) ; chr9:g.97675441A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675441A>G , CM000671.2:g.97675441A>G	GRCh38
NC_000009.11:g.100437723A>G , CM000671.1:g.100437723A>G	GRCh37
NC_000009.10:g.99477544A>G	NCBI36
NG_011642.1:g.26969T>C , LRG_471:g.26969T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.820T>C MANE Select	ENSP00000364270.5:p.Ter274Arg
ENST00000375128.4:c.820T>C	ENSP00000364270.4:p.Ter274Arg
ENST00000462523.5:c.*256T>C	ENSP00000433006.1:n.*256T>C
ENST00000485042.1:n.332T>C
NM_000380.3:c.820T>C , LRG_471t1:c.820T>C	NP_000371.1:p.Ter274Arg
NR_027302.1:n.1168T>C
XM_006717278.1:c.772+48T>C	XP_006717341.1:n.772+48T>C
XM_011518988.1:c.772+48T>C	XP_011517290.1:n.772+48T>C
NM_001354975.1:c.694T>C	NP_001341904.1:p.Ter232Arg
NR_149091.1:n.665T>C
NR_149092.1:n.831T>C
NR_149093.1:n.1357T>C
NR_149094.1:n.1251T>C
NM_000380.4:c.820T>C MANE Select	NP_000371.1:p.Ter274Arg
NM_001354975.2:c.694T>C	NP_001341904.1:p.Ter232Arg
NR_027302.2:n.1099T>C
NR_149091.2:n.596T>C
NR_149092.2:n.762T>C
NR_149093.2:n.1288T>C
NR_149094.2:n.1182T>C