Canonical Allele Identifier: CA374185337

Gene: XPA

Linked Data

• dbSNP Id: rs770365855
• gnomAD v2: 9-100437761-C-G
• gnomAD v4: 9-97675479-C-G
• MyVariant Identifiers: chr9:g.100437761C>G (hg19) ; chr9:g.97675479C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675479C>G , CM000671.2:g.97675479C>G	GRCh38
NC_000009.11:g.100437761C>G , CM000671.1:g.100437761C>G	GRCh37
NC_000009.10:g.99477582C>G	NCBI36
NG_011642.1:g.26931G>C , LRG_471:g.26931G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.782G>C MANE Select	ENSP00000364270.5:p.Cys261Ser
ENST00000375128.4:c.782G>C	ENSP00000364270.4:p.Cys261Ser
ENST00000462523.5:c.*218G>C	ENSP00000433006.1:n.*218G>C
ENST00000485042.1:n.294G>C
NM_000380.3:c.782G>C , LRG_471t1:c.782G>C	NP_000371.1:p.Cys261Ser
NR_027302.1:n.1130G>C
XM_006717278.1:c.772+10G>C	XP_006717341.1:n.772+10G>C
XM_011518988.1:c.772+10G>C	XP_011517290.1:n.772+10G>C
NM_001354975.1:c.656G>C	NP_001341904.1:p.Cys219Ser
NR_149091.1:n.627G>C
NR_149092.1:n.793G>C
NR_149093.1:n.1319G>C
NR_149094.1:n.1213G>C
NM_000380.4:c.782G>C MANE Select	NP_000371.1:p.Cys261Ser
NM_001354975.2:c.656G>C	NP_001341904.1:p.Cys219Ser
NR_027302.2:n.1061G>C
NR_149091.2:n.558G>C
NR_149092.2:n.724G>C
NR_149093.2:n.1250G>C
NR_149094.2:n.1144G>C