Canonical Allele Identifier: CA374185454

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437816G>A (hg19) ; chr9:g.97675534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675534G>A , CM000671.2:g.97675534G>A	GRCh38
NC_000009.11:g.100437816G>A , CM000671.1:g.100437816G>A	GRCh37
NC_000009.10:g.99477637G>A	NCBI36
NG_011642.1:g.26876C>T , LRG_471:g.26876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.727C>T MANE Select	ENSP00000364270.5:p.Gln243Ter
ENST00000375128.4:c.727C>T	ENSP00000364270.4:p.Gln243Ter
ENST00000462523.5:c.*163C>T	ENSP00000433006.1:n.*163C>T
ENST00000485042.1:n.239C>T
NM_000380.3:c.727C>T , LRG_471t1:c.727C>T	NP_000371.1:p.Gln243Ter
NR_027302.1:n.1075C>T
XM_006717278.1:c.727C>T	XP_006717341.1:p.Gln243Ter
XM_011518988.1:c.727C>T	XP_011517290.1:p.Gln243Ter
XR_929839.1:n.1258C>T
NM_001354975.1:c.601C>T	NP_001341904.1:p.Gln201Ter
NR_149091.1:n.572C>T
NR_149092.1:n.738C>T
NR_149093.1:n.1264C>T
NR_149094.1:n.1158C>T
NM_000380.4:c.727C>T MANE Select	NP_000371.1:p.Gln243Ter
NM_001354975.2:c.601C>T	NP_001341904.1:p.Gln201Ter
NR_027302.2:n.1006C>T
NR_149091.2:n.503C>T
NR_149092.2:n.669C>T
NR_149093.2:n.1195C>T
NR_149094.2:n.1089C>T