Canonical Allele Identifier: CA2014090721
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs948575721
gnomAD v4: 12-6471086-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471086T>C , CM000674.2:g.6471086T>C GRCh38
NC_000012.11:g.6580252T>C , CM000674.1:g.6580252T>C GRCh37
NC_000012.10:g.6450513T>C NCBI36
NG_042188.1:g.4814A>G
NG_042188.2:g.4814A>G

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2353T>C
XR_001748778.2:n.2350T>C
Search 100 bp 5'
Search 100 bp 3'