Canonical Allele Identifier: CA374187825

Gene: XPA

Linked Data

• ClinVar Variation Id: 430367
• ClinVar RCV Id: RCV000492893 ; RCV000672811
• dbSNP Id: rs104894131
• gnomAD v3: 9-97689600-C-T
• gnomAD v4: 9-97689600-C-T
• MyVariant Identifiers: chr9:g.100451882C>T (hg19) ; chr9:g.97689600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97689600C>T , CM000671.2:g.97689600C>T	GRCh38
NC_000009.11:g.100451882C>T , CM000671.1:g.100451882C>T	GRCh37
NC_000009.10:g.99491703C>T	NCBI36
NG_011642.1:g.12810G>A , LRG_471:g.12810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.323G>A MANE Select	ENSP00000364270.5:p.Cys108Tyr
ENST00000375128.4:c.323G>A	ENSP00000364270.4:p.Cys108Tyr
ENST00000462523.5:c.323G>A	ENSP00000433006.1:p.Cys108Tyr
ENST00000496104.1:n.184-2339G>A
NM_000380.3:c.323G>A , LRG_471t1:c.323G>A	NP_000371.1:p.Cys108Tyr
NR_027302.1:n.440G>A
XM_006717278.1:c.323G>A	XP_006717341.1:p.Cys108Tyr
XM_011518988.1:c.323G>A	XP_011517290.1:p.Cys108Tyr
XR_929839.1:n.434G>A
NM_001354975.1:c.197G>A	NP_001341904.1:p.Cys66Tyr
NR_149091.1:n.400+4049G>A
NR_149092.1:n.401-2339G>A
NR_149093.1:n.440G>A
NR_149094.1:n.401-2339G>A
NM_000380.4:c.323G>A MANE Select	NP_000371.1:p.Cys108Tyr
NM_001354975.2:c.197G>A	NP_001341904.1:p.Cys66Tyr
NR_027302.2:n.371G>A
NR_149091.2:n.331+4049G>A
NR_149092.2:n.332-2339G>A
NR_149093.2:n.371G>A
NR_149094.2:n.332-2339G>A