Canonical Allele Identifier: CA232349129
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1011380209
gnomAD v2: 12-6580700-A-G
gnomAD v3: 12-6471534-A-G
gnomAD v4: 12-6471534-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471534A>G , CM000674.2:g.6471534A>G GRCh38
NC_000012.11:g.6580700A>G , CM000674.1:g.6580700A>G GRCh37
NC_000012.10:g.6450961A>G NCBI36
NG_042188.1:g.4366T>C
NG_042188.2:g.4366T>C

Transcript Alleles

HGVS Amino-acid change
XR_001748777.2:n.2801A>G
XR_001748778.2:n.2798A>G