Canonical Allele Identifier: CA290433250
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs566340287
gnomAD v2: 17-37821140-C-A
gnomAD v3: 17-39664887-C-A
gnomAD v4: 17-39664887-C-A
MyVariant Identifiers: chr17:g.37821140C>A (hg19) chr17:g.39664887C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39664887C>A , CM000679.2:g.39664887C>A GRCh38
NC_000017.10:g.37821140C>A , CM000679.1:g.37821140C>A GRCh37
NC_000017.9:g.35074666C>A NCBI36
NG_008892.1:g.4542C>A , LRG_210:g.4542C>A
NG_042278.1:g.1907C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.2:c.-473C>A ENSP00000312624.2:n.-473C>A
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