Canonical Allele Identifier: CA603113594
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1407343820
gnomAD v2: 12-6580265-G-C
gnomAD v3: 12-6471099-G-C
gnomAD v4: 12-6471099-G-C
MyVariant Identifiers: chr12:g.6580265G>C (hg19) chr12:g.6471099G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471099G>C , CM000674.2:g.6471099G>C GRCh38
NC_000012.11:g.6580265G>C , CM000674.1:g.6580265G>C GRCh37
NC_000012.10:g.6450526G>C NCBI36
NG_042188.1:g.4801C>G
NG_042188.2:g.4801C>G

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2366G>C
XR_001748778.2:n.2363G>C
Search 100 bp 5'
Search 100 bp 3'