Canonical Allele Identifier: CA603113591
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1253889642
gnomAD v2: 12-6580256-G-A
gnomAD v3: 12-6471090-G-A
gnomAD v4: 12-6471090-G-A
MyVariant Identifiers: chr12:g.6580256G>A (hg19) chr12:g.6471090G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471090G>A , CM000674.2:g.6471090G>A GRCh38
NC_000012.11:g.6580256G>A , CM000674.1:g.6580256G>A GRCh37
NC_000012.10:g.6450517G>A NCBI36
NG_042188.1:g.4810C>T
NG_042188.2:g.4810C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2357G>A
XR_001748778.2:n.2354G>A
Search 100 bp 5'
Search 100 bp 3'