Canonical Allele Identifier: CA407440478
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2708730
ClinVar RCV Id: RCV003586771

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154130G>T , CM000681.2:g.55154130G>T GRCh38
NC_000019.9:g.55665498G>T , CM000681.1:g.55665498G>T GRCh37
NC_000019.8:g.60357310G>T NCBI36
NG_007866.2:g.8603C>A , LRG_432:g.8603C>A
NG_011829.2:g.109C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.449C>A MANE Select ENSP00000341838.5:p.Ser150Tyr
ENST00000665070.1:c.482C>A ENSP00000499482.1:p.Ser161Tyr
ENST00000344887.9:c.449C>A ENSP00000341838.5:p.Ser150Tyr
ENST00000585806.5:n.448C>A
ENST00000586669.5:n.457C>A
ENST00000588882.1:c.374C>A ENSP00000466729.1:p.Ser125Tyr
ENST00000589864.1:n.277C>A
NM_000363.4:c.449C>A , LRG_432t1:c.449C>A NP_000354.4:p.Ser150Tyr
NM_000363.5:c.449C>A MANE Select NP_000354.4:p.Ser150Tyr