Canonical Allele Identifier: CA2690901671
Gene: XPA HGNC NCBI

Linked Data

gnomAD v4: 9-97675386-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675386A>T , CM000671.2:g.97675386A>T GRCh38
NC_000009.11:g.100437668A>T , CM000671.1:g.100437668A>T GRCh37
NC_000009.10:g.99477489A>T NCBI36
NG_011642.1:g.27024T>A , LRG_471:g.27024T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.*53T>A MANE Select ENSP00000364270.5:n.*53T>A
ENST00000375128.4:c.*53T>A ENSP00000364270.4:n.*53T>A
ENST00000462523.5:c.*311T>A ENSP00000433006.1:n.*311T>A
ENST00000485042.1:n.387T>A
NM_000380.3:c.*53T>A , LRG_471t1:c.*53T>A NP_000371.1:n.*53T>A
NR_027302.1:n.1223T>A
XM_006717278.1:c.772+103T>A XP_006717341.1:n.772+103T>A
XM_011518988.1:c.772+103T>A XP_011517290.1:n.772+103T>A
NM_001354975.1:c.*53T>A NP_001341904.1:n.*53T>A
NR_149091.1:n.720T>A
NR_149092.1:n.886T>A
NR_149093.1:n.1412T>A
NR_149094.1:n.1306T>A
NM_000380.4:c.*53T>A MANE Select NP_000371.1:n.*53T>A
NM_001354975.2:c.*53T>A NP_001341904.1:n.*53T>A
NR_027302.2:n.1154T>A
NR_149091.2:n.651T>A
NR_149092.2:n.817T>A
NR_149093.2:n.1343T>A
NR_149094.2:n.1237T>A