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.

ClinGen Allele Registry

Canonical Allele Identifier: CA021939

Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 165511

ClinVar RCV Id: RCV000152073

dbSNP Id: rs727503500

MyVariant Identifiers: chr19:g.55663267C>A (hg19) chr19:g.55151899C>A (hg38)

PubMed: PMID:12531876

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55151899C>A , CM000681.2:g.55151899C>A	GRCh38
NC_000019.9:g.55663267C>A , CM000681.1:g.55663267C>A	GRCh37
NC_000019.8:g.60355079C>A	NCBI36
NG_007866.2:g.10834G>T , LRG_432:g.10834G>T
NG_011829.2:g.2340G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.568G>T MANE Select	ENSP00000341838.5:p.Asp190Tyr
ENST00000665070.1:c.601G>T	ENSP00000499482.1:p.Asp201Tyr
ENST00000344887.9:c.568G>T	ENSP00000341838.5:p.Asp190Tyr
ENST00000585806.5:n.567G>T
ENST00000588882.1:c.493G>T	ENSP00000466729.1:p.Asp165Tyr
ENST00000589864.1:n.396G>T
NM_000363.4:c.568G>T , LRG_432t1:c.568G>T	NP_000354.4:p.Asp190Tyr
NM_000363.5:c.568G>T MANE Select	NP_000354.4:p.Asp190Tyr