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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA122392
Gene: TNNC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12441
ClinVar RCV Id:
RCV000013254
RCV000523060
dbSNP Id:
rs104893823
MyVariant Identifiers:
chr3:g.52485301C>T (hg19)
chr3:g.52451285C>T (hg38)
PubMed:
PMID:15542288
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.52451285C>T , CM000665.2:g.52451285C>T
GRCh38
NC_000003.11:g.52485301C>T , CM000665.1:g.52485301C>T
GRCh37
NC_000003.10:g.52460341C>T
NCBI36
NG_008963.1:g.7757G>A , LRG_378:g.7757G>A
NG_033112.1:g.778C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000232975.8:c.476G>A
MANE Select
ENSP00000232975.3:p.Gly159Asp
ENST00000232975.7:c.476G>A
ENSP00000232975.3:p.Gly159Asp
NM_003280.2:c.476G>A , LRG_378t1:c.476G>A
NP_003271.1:p.Gly159Asp
NM_003280.3:c.476G>A
MANE Select
NP_003271.1:p.Gly159Asp
Search 100 bp 5'
Search 100 bp 3'