Canonical Allele Identifier: CA232348998
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1011067386
gnomAD v3: 12-6471396-C-T
gnomAD v4: 12-6471396-C-T
MyVariant Identifiers: chr12:g.6580562C>T (hg19) chr12:g.6471396C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471396C>T , CM000674.2:g.6471396C>T GRCh38
NC_000012.11:g.6580562C>T , CM000674.1:g.6580562C>T GRCh37
NC_000012.10:g.6450823C>T NCBI36
NG_042188.1:g.4504G>A
NG_042188.2:g.4504G>A

Transcript Alleles

HGVS Amino-acid change
XR_001748777.2:n.2663C>T
XR_001748778.2:n.2660C>T
Search 100 bp 5'
Search 100 bp 3'