Canonical Allele Identifier: CA5148699

Gene: XPA

Linked Data

• dbSNP Id: rs3176749
• ExAC: 9:100437843 C / T
• gnomAD v2: 9-100437843-C-T
• gnomAD v3: 9-97675561-C-T
• gnomAD v4: 9-97675561-C-T
• COSMIC: COSM1103049
• MyVariant Identifiers: chr9:g.100437843C>T (hg19) ; chr9:g.97675561C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675561C>T , CM000671.2:g.97675561C>T	GRCh38
NC_000009.11:g.100437843C>T , CM000671.1:g.100437843C>T	GRCh37
NC_000009.10:g.99477664C>T	NCBI36
NG_011642.1:g.26849G>A , LRG_471:g.26849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.700G>A MANE Select	ENSP00000364270.5:p.Val234Met
ENST00000375128.4:c.700G>A	ENSP00000364270.4:p.Val234Met
ENST00000462523.5:c.*136G>A	ENSP00000433006.1:n.*136G>A
ENST00000485042.1:n.212G>A
NM_000380.3:c.700G>A , LRG_471t1:c.700G>A	NP_000371.1:p.Val234Met
NR_027302.1:n.1048G>A
XM_006717278.1:c.700G>A	XP_006717341.1:p.Val234Met
XM_011518988.1:c.700G>A	XP_011517290.1:p.Val234Met
XR_929839.1:n.1231G>A
NM_001354975.1:c.574G>A	NP_001341904.1:p.Val192Met
NR_149091.1:n.545G>A
NR_149092.1:n.711G>A
NR_149093.1:n.1237G>A
NR_149094.1:n.1131G>A
NM_000380.4:c.700G>A MANE Select	NP_000371.1:p.Val234Met
NM_001354975.2:c.574G>A	NP_001341904.1:p.Val192Met
NR_027302.2:n.979G>A
NR_149091.2:n.476G>A
NR_149092.2:n.642G>A
NR_149093.2:n.1168G>A
NR_149094.2:n.1062G>A