Canonical Allele Identifier: CA13641605
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs2072377
gnomAD v2: 12-6580228-A-T
gnomAD v3: 12-6471062-A-T
gnomAD v4: 12-6471062-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471062A>T , CM000674.2:g.6471062A>T GRCh38
NC_000012.11:g.6580228A>T , CM000674.1:g.6580228A>T GRCh37
NC_000012.10:g.6450489A>T NCBI36
NG_042188.1:g.4838T>A
NG_042188.2:g.4838T>A

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2329A>T
XR_001748778.2:n.2326A>T