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: CA8532814

Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs776376622

ExAC: 17:37821596 G / C

gnomAD v2: 17-37821596-G-C

gnomAD v4: 17-39665343-G-C

MyVariant Identifiers: chr17:g.37821596G>C (hg19) chr17:g.39665343G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665343G>C , CM000679.2:g.39665343G>C	GRCh38
NC_000017.10:g.37821596G>C , CM000679.1:g.37821596G>C	GRCh37
NC_000017.9:g.35075122G>C	NCBI36
NG_008892.1:g.4998G>C , LRG_210:g.4998G>C
NG_042278.1:g.2363G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309889.2:c.-17G>C	ENSP00000312624.2:n.-17G>C

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