Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA8532810

Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs754946182

ExAC: 17:37821589 G / A

gnomAD v2: 17-37821589-G-A

gnomAD v3: 17-39665336-G-A

gnomAD v4: 17-39665336-G-A

MyVariant Identifiers: chr17:g.37821589G>A (hg19) chr17:g.39665336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665336G>A , CM000679.2:g.39665336G>A	GRCh38
NC_000017.10:g.37821589G>A , CM000679.1:g.37821589G>A	GRCh37
NC_000017.9:g.35075115G>A	NCBI36
NG_008892.1:g.4991G>A , LRG_210:g.4991G>A
NG_042278.1:g.2356G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000309889.2:c.-24G>A	ENSP00000312624.2:n.-24G>A

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