Canonical Allele Identifier: CA1866632476
Gene: XPA HGNC NCBI

Linked Data

dbSNP Id: rs1828349197
gnomAD v4: 9-97675868-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675868C>A , CM000671.2:g.97675868C>A GRCh38
NC_000009.11:g.100438150C>A , CM000671.1:g.100438150C>A GRCh37
NC_000009.10:g.99477971C>A NCBI36
NG_011642.1:g.26542G>T , LRG_471:g.26542G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.674-281G>T MANE Select ENSP00000364270.5:n.674-281G>T
ENST00000375128.4:c.674-281G>T ENSP00000364270.4:n.674-281G>T
ENST00000462523.5:c.*110-281G>T ENSP00000433006.1:n.*110-281G>T
ENST00000485042.1:n.88G>T
NM_000380.3:c.674-281G>T , LRG_471t1:c.674-281G>T NP_000371.1:n.674-281G>T
NR_027302.1:n.1022-281G>T
XM_006717278.1:c.674-281G>T XP_006717341.1:n.674-281G>T
XM_011518988.1:c.674-281G>T XP_011517290.1:n.674-281G>T
XR_929839.1:n.1107G>T
NM_001354975.1:c.548-281G>T NP_001341904.1:n.548-281G>T
NR_149091.1:n.519-281G>T
NR_149092.1:n.685-281G>T
NR_149093.1:n.1113G>T
NR_149094.1:n.1007G>T
NM_000380.4:c.674-281G>T MANE Select NP_000371.1:n.674-281G>T
NM_001354975.2:c.548-281G>T NP_001341904.1:n.548-281G>T
NR_027302.2:n.953-281G>T
NR_149091.2:n.450-281G>T
NR_149092.2:n.616-281G>T
NR_149093.2:n.1044G>T
NR_149094.2:n.938G>T