Canonical Allele Identifier: CA868995740

Gene: XPA

Linked Data

• dbSNP Id: rs1192196293
• gnomAD v3: 9-97675415-A-G
• gnomAD v4: 9-97675415-A-G
• MyVariant Identifiers: chr9:g.100437697A>G (hg19) ; chr9:g.97675415A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675415A>G , CM000671.2:g.97675415A>G	GRCh38
NC_000009.11:g.100437697A>G , CM000671.1:g.100437697A>G	GRCh37
NC_000009.10:g.99477518A>G	NCBI36
NG_011642.1:g.26995T>C , LRG_471:g.26995T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*24T>C MANE Select	ENSP00000364270.5:n.*24T>C
ENST00000375128.4:c.*24T>C	ENSP00000364270.4:n.*24T>C
ENST00000462523.5:c.*282T>C	ENSP00000433006.1:n.*282T>C
ENST00000485042.1:n.358T>C
NM_000380.3:c.*24T>C , LRG_471t1:c.*24T>C	NP_000371.1:n.*24T>C
NR_027302.1:n.1194T>C
XM_006717278.1:c.772+74T>C	XP_006717341.1:n.772+74T>C
XM_011518988.1:c.772+74T>C	XP_011517290.1:n.772+74T>C
NM_001354975.1:c.*24T>C	NP_001341904.1:n.*24T>C
NR_149091.1:n.691T>C
NR_149092.1:n.857T>C
NR_149093.1:n.1383T>C
NR_149094.1:n.1277T>C
NM_000380.4:c.*24T>C MANE Select	NP_000371.1:n.*24T>C
NM_001354975.2:c.*24T>C	NP_001341904.1:n.*24T>C
NR_027302.2:n.1125T>C
NR_149091.2:n.622T>C
NR_149092.2:n.788T>C
NR_149093.2:n.1314T>C
NR_149094.2:n.1208T>C