Canonical Allele Identifier: CA374185378

Gene: XPA

Linked Data

• dbSNP Id: rs1828330326
• MyVariant Identifiers: chr9:g.100437782T>C (hg19) ; chr9:g.97675500T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675500T>C , CM000671.2:g.97675500T>C	GRCh38
NC_000009.11:g.100437782T>C , CM000671.1:g.100437782T>C	GRCh37
NC_000009.10:g.99477603T>C	NCBI36
NG_011642.1:g.26910A>G , LRG_471:g.26910A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.761A>G MANE Select	ENSP00000364270.5:p.Asp254Gly
ENST00000375128.4:c.761A>G	ENSP00000364270.4:p.Asp254Gly
ENST00000462523.5:c.*197A>G	ENSP00000433006.1:n.*197A>G
ENST00000485042.1:n.273A>G
NM_000380.3:c.761A>G , LRG_471t1:c.761A>G	NP_000371.1:p.Asp254Gly
NR_027302.1:n.1109A>G
XM_006717278.1:c.761A>G	XP_006717341.1:p.Asp254Gly
XM_011518988.1:c.761A>G	XP_011517290.1:p.Asp254Gly
XR_929839.1:n.1292A>G
NM_001354975.1:c.635A>G	NP_001341904.1:p.Asp212Gly
NR_149091.1:n.606A>G
NR_149092.1:n.772A>G
NR_149093.1:n.1298A>G
NR_149094.1:n.1192A>G
NM_000380.4:c.761A>G MANE Select	NP_000371.1:p.Asp254Gly
NM_001354975.2:c.635A>G	NP_001341904.1:p.Asp212Gly
NR_027302.2:n.1040A>G
NR_149091.2:n.537A>G
NR_149092.2:n.703A>G
NR_149093.2:n.1229A>G
NR_149094.2:n.1123A>G