Canonical Allele Identifier: CA196742049

Gene: XPA

Linked Data

• dbSNP Id: rs997912032
• gnomAD v2: 9-100437850-T-G
• gnomAD v4: 9-97675568-T-G
• MyVariant Identifiers: chr9:g.100437850T>G (hg19) ; chr9:g.97675568T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675568T>G , CM000671.2:g.97675568T>G	GRCh38
NC_000009.11:g.100437850T>G , CM000671.1:g.100437850T>G	GRCh37
NC_000009.10:g.99477671T>G	NCBI36
NG_011642.1:g.26842A>C , LRG_471:g.26842A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.693A>C MANE Select	ENSP00000364270.5:p.Arg231Ser
ENST00000375128.4:c.693A>C	ENSP00000364270.4:p.Arg231Ser
ENST00000462523.5:c.*129A>C	ENSP00000433006.1:n.*129A>C
ENST00000485042.1:n.205A>C
NM_000380.3:c.693A>C , LRG_471t1:c.693A>C	NP_000371.1:p.Arg231Ser
NR_027302.1:n.1041A>C
XM_006717278.1:c.693A>C	XP_006717341.1:p.Arg231Ser
XM_011518988.1:c.693A>C	XP_011517290.1:p.Arg231Ser
XR_929839.1:n.1224A>C
NM_001354975.1:c.567A>C	NP_001341904.1:p.Arg189Ser
NR_149091.1:n.538A>C
NR_149092.1:n.704A>C
NR_149093.1:n.1230A>C
NR_149094.1:n.1124A>C
NM_000380.4:c.693A>C MANE Select	NP_000371.1:p.Arg231Ser
NM_001354975.2:c.567A>C	NP_001341904.1:p.Arg189Ser
NR_027302.2:n.972A>C
NR_149091.2:n.469A>C
NR_149092.2:n.635A>C
NR_149093.2:n.1161A>C
NR_149094.2:n.1055A>C