Canonical Allele Identifier: CA466174834

Gene: XPA

Linked Data

• ClinVar Variation Id: 1561837
• ClinVar RCV Id: RCV002212114
• dbSNP Id: rs2131379171
• gnomAD v4: 9-97675559-C-T
• MyVariant Identifiers: chr9:g.100437841C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675559C>T , CM000671.2:g.97675559C>T	GRCh38
NC_000009.11:g.100437841C>T , CM000671.1:g.100437841C>T	GRCh37
NC_000009.10:g.99477662C>T	NCBI36
NG_011642.1:g.26851G>A , LRG_471:g.26851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.702G>A MANE Select	ENSP00000364270.5:p.Val234=
ENST00000375128.4:c.702G>A	ENSP00000364270.4:p.Val234=
ENST00000462523.5:c.*138G>A	ENSP00000433006.1:n.*138G>A
ENST00000485042.1:n.214G>A
NM_000380.3:c.702G>A , LRG_471t1:c.702G>A	NP_000371.1:p.Val234=
NR_027302.1:n.1050G>A
XM_006717278.1:c.702G>A	XP_006717341.1:p.Val234=
XM_011518988.1:c.702G>A	XP_011517290.1:p.Val234=
XR_929839.1:n.1233G>A
NM_001354975.1:c.576G>A	NP_001341904.1:p.Val192=
NR_149091.1:n.547G>A
NR_149092.1:n.713G>A
NR_149093.1:n.1239G>A
NR_149094.1:n.1133G>A
NM_000380.4:c.702G>A MANE Select	NP_000371.1:p.Val234=
NM_001354975.2:c.576G>A	NP_001341904.1:p.Val192=
NR_027302.2:n.981G>A
NR_149091.2:n.478G>A
NR_149092.2:n.644G>A
NR_149093.2:n.1170G>A
NR_149094.2:n.1064G>A