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: CA237513

Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 191777

ClinVar RCV Id: RCV001301021 RCV002485102

dbSNP Id: rs786205287

gnomAD v2: 17-37822259-C-A

gnomAD v3: 17-39666006-C-A

gnomAD v4: 17-39666006-C-A

MyVariant Identifiers: chr17:g.37822259C>A (hg19) chr17:g.39666006C>A (hg38)

PubMed: PMID:23861362

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666006C>A , CM000679.2:g.39666006C>A	GRCh38
NC_000017.10:g.37822259C>A , CM000679.1:g.37822259C>A	GRCh37
NC_000017.9:g.35075785C>A	NCBI36
NG_008892.1:g.5661C>A , LRG_210:g.5661C>A
NG_042278.1:g.3026C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000309889.3:c.401C>A MANE Select	ENSP00000312624.2:p.Ala134Asp
ENST00000309889.2:c.401C>A	ENSP00000312624.2:p.Ala134Asp
ENST00000578283.1:c.329C>A	ENSP00000462787.1:p.Ala110Asp
NM_003673.3:c.401C>A , LRG_210t1:c.401C>A	NP_003664.1:p.Ala134Asp
NM_003673.4:c.401C>A MANE Select	NP_003664.1:p.Ala134Asp

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