Canonical Allele Identifier: CA603113597
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1415499108
gnomAD v2: 12-6580270-G-C
gnomAD v3: 12-6471104-G-C
gnomAD v4: 12-6471104-G-C
MyVariant Identifiers: chr12:g.6580270G>C (hg19) chr12:g.6471104G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471104G>C , CM000674.2:g.6471104G>C GRCh38
NC_000012.11:g.6580270G>C , CM000674.1:g.6580270G>C GRCh37
NC_000012.10:g.6450531G>C NCBI36
NG_042188.1:g.4796C>G
NG_042188.2:g.4796C>G

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2371G>C
XR_001748778.2:n.2368G>C
Search 100 bp 5'
Search 100 bp 3'