Canonical Allele Identifier: CA232348712
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs980281274
gnomAD v4: 12-6471134-A-C
MyVariant Identifiers: chr12:g.6580300A>C (hg19) chr12:g.6471134A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471134A>C , CM000674.2:g.6471134A>C GRCh38
NC_000012.11:g.6580300A>C , CM000674.1:g.6580300A>C GRCh37
NC_000012.10:g.6450561A>C NCBI36
NG_042188.1:g.4766T>G
NG_042188.2:g.4766T>G

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2401A>C
XR_001748778.2:n.2398A>C
Search 100 bp 5'
Search 100 bp 3'