Canonical Allele Identifier: CA196745445

Gene: XPA

Linked Data

• dbSNP Id: rs1038997460
• gnomAD v2: 9-100438095-G-A
• gnomAD v3: 9-97675813-G-A
• gnomAD v4: 9-97675813-G-A
• MyVariant Identifiers: chr9:g.100438095G>A (hg19) ; chr9:g.97675813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675813G>A , CM000671.2:g.97675813G>A	GRCh38
NC_000009.11:g.100438095G>A , CM000671.1:g.100438095G>A	GRCh37
NC_000009.10:g.99477916G>A	NCBI36
NG_011642.1:g.26597C>T , LRG_471:g.26597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-226C>T MANE Select	ENSP00000364270.5:n.674-226C>T
ENST00000375128.4:c.674-226C>T	ENSP00000364270.4:n.674-226C>T
ENST00000462523.5:c.*110-226C>T	ENSP00000433006.1:n.*110-226C>T
ENST00000485042.1:n.143C>T
NM_000380.3:c.674-226C>T , LRG_471t1:c.674-226C>T	NP_000371.1:n.674-226C>T
NR_027302.1:n.1022-226C>T
XM_006717278.1:c.674-226C>T	XP_006717341.1:n.674-226C>T
XM_011518988.1:c.674-226C>T	XP_011517290.1:n.674-226C>T
XR_929839.1:n.1162C>T
NM_001354975.1:c.548-226C>T	NP_001341904.1:n.548-226C>T
NR_149091.1:n.519-226C>T
NR_149092.1:n.685-226C>T
NR_149093.1:n.1168C>T
NR_149094.1:n.1062C>T
NM_000380.4:c.674-226C>T MANE Select	NP_000371.1:n.674-226C>T
NM_001354975.2:c.548-226C>T	NP_001341904.1:n.548-226C>T
NR_027302.2:n.953-226C>T
NR_149091.2:n.450-226C>T
NR_149092.2:n.616-226C>T
NR_149093.2:n.1099C>T
NR_149094.2:n.993C>T