Canonical Allele Identifier: CA690907350
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1171372457
MyVariant Identifiers: chr12:g.6580549T>G (hg19) chr12:g.6471383T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471383T>G , CM000674.2:g.6471383T>G GRCh38
NC_000012.11:g.6580549T>G , CM000674.1:g.6580549T>G GRCh37
NC_000012.10:g.6450810T>G NCBI36
NG_042188.1:g.4517A>C
NG_042188.2:g.4517A>C

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2650T>G
XR_001748778.2:n.2647T>G
Search 100 bp 5'
Search 100 bp 3'