Canonical Allele Identifier: CA374185241

Gene: XPA

Linked Data

• dbSNP Id: rs1828326360
• gnomAD v3: 9-97675439-T-G
• gnomAD v4: 9-97675439-T-G
• MyVariant Identifiers: chr9:g.100437721T>G (hg19) ; chr9:g.97675439T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675439T>G , CM000671.2:g.97675439T>G	GRCh38
NC_000009.11:g.100437721T>G , CM000671.1:g.100437721T>G	GRCh37
NC_000009.10:g.99477542T>G	NCBI36
NG_011642.1:g.26971A>C , LRG_471:g.26971A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.822A>C MANE Select	ENSP00000364270.5:p.Ter274Cys
ENST00000375128.4:c.822A>C	ENSP00000364270.4:p.Ter274Cys
ENST00000462523.5:c.*258A>C	ENSP00000433006.1:n.*258A>C
ENST00000485042.1:n.334A>C
NM_000380.3:c.822A>C , LRG_471t1:c.822A>C	NP_000371.1:p.Ter274Cys
NR_027302.1:n.1170A>C
XM_006717278.1:c.772+50A>C	XP_006717341.1:n.772+50A>C
XM_011518988.1:c.772+50A>C	XP_011517290.1:n.772+50A>C
NM_001354975.1:c.696A>C	NP_001341904.1:p.Ter232Cys
NR_149091.1:n.667A>C
NR_149092.1:n.833A>C
NR_149093.1:n.1359A>C
NR_149094.1:n.1253A>C
NM_000380.4:c.822A>C MANE Select	NP_000371.1:p.Ter274Cys
NM_001354975.2:c.696A>C	NP_001341904.1:p.Ter232Cys
NR_027302.2:n.1101A>C
NR_149091.2:n.598A>C
NR_149092.2:n.764A>C
NR_149093.2:n.1290A>C
NR_149094.2:n.1184A>C