Canonical Allele Identifier: CA374185568

Gene: XPA

Linked Data

• dbSNP Id: rs1156955163
• gnomAD v2: 9-100437869-T-G
• gnomAD v4: 9-97675587-T-G
• MyVariant Identifiers: chr9:g.100437869T>G (hg19) ; chr9:g.97675587T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675587T>G , CM000671.2:g.97675587T>G	GRCh38
NC_000009.11:g.100437869T>G , CM000671.1:g.100437869T>G	GRCh37
NC_000009.10:g.99477690T>G	NCBI36
NG_011642.1:g.26823A>C , LRG_471:g.26823A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674A>C MANE Select	ENSP00000364270.5:p.Glu225Ala
ENST00000375128.4:c.674A>C	ENSP00000364270.4:p.Glu225Ala
ENST00000462523.5:c.*110A>C	ENSP00000433006.1:n.*110A>C
ENST00000485042.1:n.186A>C
NM_000380.3:c.674A>C , LRG_471t1:c.674A>C	NP_000371.1:p.Glu225Ala
NR_027302.1:n.1022A>C
XM_006717278.1:c.674A>C	XP_006717341.1:p.Glu225Ala
XM_011518988.1:c.674A>C	XP_011517290.1:p.Glu225Ala
XR_929839.1:n.1205A>C
NM_001354975.1:c.548A>C	NP_001341904.1:p.Glu183Ala
NR_149091.1:n.519A>C
NR_149092.1:n.685A>C
NR_149093.1:n.1211A>C
NR_149094.1:n.1105A>C
NM_000380.4:c.674A>C MANE Select	NP_000371.1:p.Glu225Ala
NM_001354975.2:c.548A>C	NP_001341904.1:p.Glu183Ala
NR_027302.2:n.953A>C
NR_149091.2:n.450A>C
NR_149092.2:n.616A>C
NR_149093.2:n.1142A>C
NR_149094.2:n.1036A>C