Canonical Allele Identifier: CA374185420

Gene: XPA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.742C>T MANE Select	ENSP00000364270.5:p.Pro248Ser
ENST00000375128.4:c.742C>T	ENSP00000364270.4:p.Pro248Ser
ENST00000462523.5:c.*178C>T	ENSP00000433006.1:n.*178C>T
ENST00000485042.1:n.254C>T
NM_000380.3:c.742C>T , LRG_471t1:c.742C>T	NP_000371.1:p.Pro248Ser
NR_027302.1:n.1090C>T
XM_006717278.1:c.742C>T	XP_006717341.1:p.Pro248Ser
XM_011518988.1:c.742C>T	XP_011517290.1:p.Pro248Ser
XR_929839.1:n.1273C>T
NM_001354975.1:c.616C>T	NP_001341904.1:p.Pro206Ser
NR_149091.1:n.587C>T
NR_149092.1:n.753C>T
NR_149093.1:n.1279C>T
NR_149094.1:n.1173C>T
NM_000380.4:c.742C>T MANE Select	NP_000371.1:p.Pro248Ser
NM_001354975.2:c.616C>T	NP_001341904.1:p.Pro206Ser
NR_027302.2:n.1021C>T
NR_149091.2:n.518C>T
NR_149092.2:n.684C>T
NR_149093.2:n.1210C>T
NR_149094.2:n.1104C>T