Canonical Allele Identifier: CA944348591
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1213111875
gnomAD v3: 12-6471401-C-G
gnomAD v4: 12-6471401-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471401C>G , CM000674.2:g.6471401C>G GRCh38
NC_000012.11:g.6580567C>G , CM000674.1:g.6580567C>G GRCh37
NC_000012.10:g.6450828C>G NCBI36
NG_042188.1:g.4499G>C
NG_042188.2:g.4499G>C

Transcript Alleles

HGVS Amino-acid change
XR_001748777.2:n.2668C>G
XR_001748778.2:n.2665C>G
Search 100 bp 5'
Search 100 bp 3'