Canonical Allele Identifier: CA5148655

Gene: XPA

Linked Data

• dbSNP Id: rs376885568
• ExAC: 9:100437683 A / G
• gnomAD v2: 9-100437683-A-G
• gnomAD v3: 9-97675401-A-G
• gnomAD v4: 9-97675401-A-G
• MyVariant Identifiers: chr9:g.100437683A>G (hg19) ; chr9:g.97675401A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675401A>G , CM000671.2:g.97675401A>G	GRCh38
NC_000009.11:g.100437683A>G , CM000671.1:g.100437683A>G	GRCh37
NC_000009.10:g.99477504A>G	NCBI36
NG_011642.1:g.27009T>C , LRG_471:g.27009T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*38T>C MANE Select	ENSP00000364270.5:n.*38T>C
ENST00000375128.4:c.*38T>C	ENSP00000364270.4:n.*38T>C
ENST00000462523.5:c.*296T>C	ENSP00000433006.1:n.*296T>C
ENST00000485042.1:n.372T>C
NM_000380.3:c.*38T>C , LRG_471t1:c.*38T>C	NP_000371.1:n.*38T>C
NR_027302.1:n.1208T>C
XM_006717278.1:c.772+88T>C	XP_006717341.1:n.772+88T>C
XM_011518988.1:c.772+88T>C	XP_011517290.1:n.772+88T>C
NM_001354975.1:c.*38T>C	NP_001341904.1:n.*38T>C
NR_149091.1:n.705T>C
NR_149092.1:n.871T>C
NR_149093.1:n.1397T>C
NR_149094.1:n.1291T>C
NM_000380.4:c.*38T>C MANE Select	NP_000371.1:n.*38T>C
NM_001354975.2:c.*38T>C	NP_001341904.1:n.*38T>C
NR_027302.2:n.1139T>C
NR_149091.2:n.636T>C
NR_149092.2:n.802T>C
NR_149093.2:n.1328T>C
NR_149094.2:n.1222T>C