Canonical Allele Identifier: CA5148696

Gene: XPA

Linked Data

• ClinVar Variation Id: 1083303
• ClinVar RCV Id: RCV001399934
• dbSNP Id: rs373644319
• ExAC: 9:100437826 C / T
• gnomAD v2: 9-100437826-C-T
• gnomAD v3: 9-97675544-C-T
• gnomAD v4: 9-97675544-C-T
• COSMIC: COSM1464331
• MyVariant Identifiers: chr9:g.100437826C>T (hg19) ; chr9:g.97675544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675544C>T , CM000671.2:g.97675544C>T	GRCh38
NC_000009.11:g.100437826C>T , CM000671.1:g.100437826C>T	GRCh37
NC_000009.10:g.99477647C>T	NCBI36
NG_011642.1:g.26866G>A , LRG_471:g.26866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.717G>A MANE Select	ENSP00000364270.5:p.Thr239=
ENST00000375128.4:c.717G>A	ENSP00000364270.4:p.Thr239=
ENST00000462523.5:c.*153G>A	ENSP00000433006.1:n.*153G>A
ENST00000485042.1:n.229G>A
NM_000380.3:c.717G>A , LRG_471t1:c.717G>A	NP_000371.1:p.Thr239=
NR_027302.1:n.1065G>A
XM_006717278.1:c.717G>A	XP_006717341.1:p.Thr239=
XM_011518988.1:c.717G>A	XP_011517290.1:p.Thr239=
XR_929839.1:n.1248G>A
NM_001354975.1:c.591G>A	NP_001341904.1:p.Thr197=
NR_149091.1:n.562G>A
NR_149092.1:n.728G>A
NR_149093.1:n.1254G>A
NR_149094.1:n.1148G>A
NM_000380.4:c.717G>A MANE Select	NP_000371.1:p.Thr239=
NM_001354975.2:c.591G>A	NP_001341904.1:p.Thr197=
NR_027302.2:n.996G>A
NR_149091.2:n.493G>A
NR_149092.2:n.659G>A
NR_149093.2:n.1185G>A
NR_149094.2:n.1079G>A