Canonical Allele Identifier: CA1866632389
Gene: XPA HGNC NCBI

Linked Data

dbSNP Id: rs1828341693
gnomAD v4: 9-97675688-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675688C>G , CM000671.2:g.97675688C>G GRCh38
NC_000009.11:g.100437970C>G , CM000671.1:g.100437970C>G GRCh37
NC_000009.10:g.99477791C>G NCBI36
NG_011642.1:g.26722G>C , LRG_471:g.26722G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.674-101G>C MANE Select ENSP00000364270.5:n.674-101G>C
ENST00000375128.4:c.674-101G>C ENSP00000364270.4:n.674-101G>C
ENST00000462523.5:c.*110-101G>C ENSP00000433006.1:n.*110-101G>C
ENST00000485042.1:n.185+83G>C
NM_000380.3:c.674-101G>C , LRG_471t1:c.674-101G>C NP_000371.1:n.674-101G>C
NR_027302.1:n.1022-101G>C
XM_006717278.1:c.674-101G>C XP_006717341.1:n.674-101G>C
XM_011518988.1:c.674-101G>C XP_011517290.1:n.674-101G>C
XR_929839.1:n.1204+83G>C
NM_001354975.1:c.548-101G>C NP_001341904.1:n.548-101G>C
NR_149091.1:n.519-101G>C
NR_149092.1:n.685-101G>C
NR_149093.1:n.1210+83G>C
NR_149094.1:n.1104+83G>C
NM_000380.4:c.674-101G>C MANE Select NP_000371.1:n.674-101G>C
NM_001354975.2:c.548-101G>C NP_001341904.1:n.548-101G>C
NR_027302.2:n.953-101G>C
NR_149091.2:n.450-101G>C
NR_149092.2:n.616-101G>C
NR_149093.2:n.1141+83G>C
NR_149094.2:n.1035+83G>C