Canonical Allele Identifier: CA374185475

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437827G>T (hg19) ; chr9:g.97675545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675545G>T , CM000671.2:g.97675545G>T	GRCh38
NC_000009.11:g.100437827G>T , CM000671.1:g.100437827G>T	GRCh37
NC_000009.10:g.99477648G>T	NCBI36
NG_011642.1:g.26865C>A , LRG_471:g.26865C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.716C>A MANE Select	ENSP00000364270.5:p.Thr239Lys
ENST00000375128.4:c.716C>A	ENSP00000364270.4:p.Thr239Lys
ENST00000462523.5:c.*152C>A	ENSP00000433006.1:n.*152C>A
ENST00000485042.1:n.228C>A
NM_000380.3:c.716C>A , LRG_471t1:c.716C>A	NP_000371.1:p.Thr239Lys
NR_027302.1:n.1064C>A
XM_006717278.1:c.716C>A	XP_006717341.1:p.Thr239Lys
XM_011518988.1:c.716C>A	XP_011517290.1:p.Thr239Lys
XR_929839.1:n.1247C>A
NM_001354975.1:c.590C>A	NP_001341904.1:p.Thr197Lys
NR_149091.1:n.561C>A
NR_149092.1:n.727C>A
NR_149093.1:n.1253C>A
NR_149094.1:n.1147C>A
NM_000380.4:c.716C>A MANE Select	NP_000371.1:p.Thr239Lys
NM_001354975.2:c.590C>A	NP_001341904.1:p.Thr197Lys
NR_027302.2:n.995C>A
NR_149091.2:n.492C>A
NR_149092.2:n.658C>A
NR_149093.2:n.1184C>A
NR_149094.2:n.1078C>A