Canonical Allele Identifier: CA2591016496
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs2137019419
gnomAD v3: 12-6471415-A-C
gnomAD v4: 12-6471415-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471415A>C , CM000674.2:g.6471415A>C GRCh38
NC_000012.11:g.6580581A>C , CM000674.1:g.6580581A>C GRCh37
NC_000012.10:g.6450842A>C NCBI36
NG_042188.1:g.4485T>G
NG_042188.2:g.4485T>G

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2682A>C
XR_001748778.2:n.2679A>C