Canonical Allele Identifier: CA374185421

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437801G>C (hg19) ; chr9:g.97675519G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675519G>C , CM000671.2:g.97675519G>C	GRCh38
NC_000009.11:g.100437801G>C , CM000671.1:g.100437801G>C	GRCh37
NC_000009.10:g.99477622G>C	NCBI36
NG_011642.1:g.26891C>G , LRG_471:g.26891C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.742C>G MANE Select	ENSP00000364270.5:p.Pro248Ala
ENST00000375128.4:c.742C>G	ENSP00000364270.4:p.Pro248Ala
ENST00000462523.5:c.*178C>G	ENSP00000433006.1:n.*178C>G
ENST00000485042.1:n.254C>G
NM_000380.3:c.742C>G , LRG_471t1:c.742C>G	NP_000371.1:p.Pro248Ala
NR_027302.1:n.1090C>G
XM_006717278.1:c.742C>G	XP_006717341.1:p.Pro248Ala
XM_011518988.1:c.742C>G	XP_011517290.1:p.Pro248Ala
XR_929839.1:n.1273C>G
NM_001354975.1:c.616C>G	NP_001341904.1:p.Pro206Ala
NR_149091.1:n.587C>G
NR_149092.1:n.753C>G
NR_149093.1:n.1279C>G
NR_149094.1:n.1173C>G
NM_000380.4:c.742C>G MANE Select	NP_000371.1:p.Pro248Ala
NM_001354975.2:c.616C>G	NP_001341904.1:p.Pro206Ala
NR_027302.2:n.1021C>G
NR_149091.2:n.518C>G
NR_149092.2:n.684C>G
NR_149093.2:n.1210C>G
NR_149094.2:n.1104C>G