Canonical Allele Identifier: CA5148697

Gene: XPA

Linked Data

• dbSNP Id: rs769468872
• ExAC: 9:100437827 G / A
• gnomAD v2: 9-100437827-G-A
• gnomAD v4: 9-97675545-G-A
• COSMIC: COSM1103048
• MyVariant Identifiers: chr9:g.100437827G>A (hg19) ; chr9:g.97675545G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.716C>T MANE Select	ENSP00000364270.5:p.Thr239Met
ENST00000375128.4:c.716C>T	ENSP00000364270.4:p.Thr239Met
ENST00000462523.5:c.*152C>T	ENSP00000433006.1:n.*152C>T
ENST00000485042.1:n.228C>T
NM_000380.3:c.716C>T , LRG_471t1:c.716C>T	NP_000371.1:p.Thr239Met
NR_027302.1:n.1064C>T
XM_006717278.1:c.716C>T	XP_006717341.1:p.Thr239Met
XM_011518988.1:c.716C>T	XP_011517290.1:p.Thr239Met
XR_929839.1:n.1247C>T
NM_001354975.1:c.590C>T	NP_001341904.1:p.Thr197Met
NR_149091.1:n.561C>T
NR_149092.1:n.727C>T
NR_149093.1:n.1253C>T
NR_149094.1:n.1147C>T
NM_000380.4:c.716C>T MANE Select	NP_000371.1:p.Thr239Met
NM_001354975.2:c.590C>T	NP_001341904.1:p.Thr197Met
NR_027302.2:n.995C>T
NR_149091.2:n.492C>T
NR_149092.2:n.658C>T
NR_149093.2:n.1184C>T
NR_149094.2:n.1078C>T