Canonical Allele Identifier: CA2690901746
Gene: XPA HGNC NCBI

Linked Data

gnomAD v4: 9-97675720-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675720T>A , CM000671.2:g.97675720T>A GRCh38
NC_000009.11:g.100438002T>A , CM000671.1:g.100438002T>A GRCh37
NC_000009.10:g.99477823T>A NCBI36
NG_011642.1:g.26690A>T , LRG_471:g.26690A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.674-133A>T MANE Select ENSP00000364270.5:n.674-133A>T
ENST00000375128.4:c.674-133A>T ENSP00000364270.4:n.674-133A>T
ENST00000462523.5:c.*110-133A>T ENSP00000433006.1:n.*110-133A>T
ENST00000485042.1:n.185+51A>T
NM_000380.3:c.674-133A>T , LRG_471t1:c.674-133A>T NP_000371.1:n.674-133A>T
NR_027302.1:n.1022-133A>T
XM_006717278.1:c.674-133A>T XP_006717341.1:n.674-133A>T
XM_011518988.1:c.674-133A>T XP_011517290.1:n.674-133A>T
XR_929839.1:n.1204+51A>T
NM_001354975.1:c.548-133A>T NP_001341904.1:n.548-133A>T
NR_149091.1:n.519-133A>T
NR_149092.1:n.685-133A>T
NR_149093.1:n.1210+51A>T
NR_149094.1:n.1104+51A>T
NM_000380.4:c.674-133A>T MANE Select NP_000371.1:n.674-133A>T
NM_001354975.2:c.548-133A>T NP_001341904.1:n.548-133A>T
NR_027302.2:n.953-133A>T
NR_149091.2:n.450-133A>T
NR_149092.2:n.616-133A>T
NR_149093.2:n.1141+51A>T
NR_149094.2:n.1035+51A>T