Canonical Allele Identifier: CA2690901764
Gene: XPA HGNC NCBI

Linked Data

gnomAD v4: 9-97675750-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675750T>A , CM000671.2:g.97675750T>A GRCh38
NC_000009.11:g.100438032T>A , CM000671.1:g.100438032T>A GRCh37
NC_000009.10:g.99477853T>A NCBI36
NG_011642.1:g.26660A>T , LRG_471:g.26660A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.674-163A>T MANE Select ENSP00000364270.5:n.674-163A>T
ENST00000375128.4:c.674-163A>T ENSP00000364270.4:n.674-163A>T
ENST00000462523.5:c.*110-163A>T ENSP00000433006.1:n.*110-163A>T
ENST00000485042.1:n.185+21A>T
NM_000380.3:c.674-163A>T , LRG_471t1:c.674-163A>T NP_000371.1:n.674-163A>T
NR_027302.1:n.1022-163A>T
XM_006717278.1:c.674-163A>T XP_006717341.1:n.674-163A>T
XM_011518988.1:c.674-163A>T XP_011517290.1:n.674-163A>T
XR_929839.1:n.1204+21A>T
NM_001354975.1:c.548-163A>T NP_001341904.1:n.548-163A>T
NR_149091.1:n.519-163A>T
NR_149092.1:n.685-163A>T
NR_149093.1:n.1210+21A>T
NR_149094.1:n.1104+21A>T
NM_000380.4:c.674-163A>T MANE Select NP_000371.1:n.674-163A>T
NM_001354975.2:c.548-163A>T NP_001341904.1:n.548-163A>T
NR_027302.2:n.953-163A>T
NR_149091.2:n.450-163A>T
NR_149092.2:n.616-163A>T
NR_149093.2:n.1141+21A>T
NR_149094.2:n.1035+21A>T