Canonical Allele Identifier: CA2785233291
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675648C>A , CM000671.2:g.97675648C>A GRCh38
NC_000009.11:g.100437930C>A , CM000671.1:g.100437930C>A GRCh37
NC_000009.10:g.99477751C>A NCBI36
NG_011642.1:g.26762G>T , LRG_471:g.26762G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.674-61G>T MANE Select ENSP00000364270.5:n.674-61G>T
ENST00000375128.4:c.674-61G>T ENSP00000364270.4:n.674-61G>T
ENST00000462523.5:c.*110-61G>T ENSP00000433006.1:n.*110-61G>T
ENST00000485042.1:n.186-61G>T
NM_000380.3:c.674-61G>T , LRG_471t1:c.674-61G>T NP_000371.1:n.674-61G>T
NR_027302.1:n.1022-61G>T
XM_006717278.1:c.674-61G>T XP_006717341.1:n.674-61G>T
XM_011518988.1:c.674-61G>T XP_011517290.1:n.674-61G>T
XR_929839.1:n.1205-61G>T
NM_001354975.1:c.548-61G>T NP_001341904.1:n.548-61G>T
NR_149091.1:n.519-61G>T
NR_149092.1:n.685-61G>T
NR_149093.1:n.1211-61G>T
NR_149094.1:n.1105-61G>T
NM_000380.4:c.674-61G>T MANE Select NP_000371.1:n.674-61G>T
NM_001354975.2:c.548-61G>T NP_001341904.1:n.548-61G>T
NR_027302.2:n.953-61G>T
NR_149091.2:n.450-61G>T
NR_149092.2:n.616-61G>T
NR_149093.2:n.1142-61G>T
NR_149094.2:n.1036-61G>T