Canonical Allele Identifier: CA508989468
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 918225
ClinVar RCV Id: RCV001175717
dbSNP Id: rs2085712789
MyVariant Identifiers: chr19:g.55665545G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154177G>A , CM000681.2:g.55154177G>A GRCh38
NC_000019.9:g.55665545G>A , CM000681.1:g.55665545G>A GRCh37
NC_000019.8:g.60357357G>A NCBI36
NG_007866.2:g.8556C>T , LRG_432:g.8556C>T
NG_011829.2:g.62C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.402C>T MANE Select ENSP00000341838.5:p.Asp134=
ENST00000665070.1:c.435C>T ENSP00000499482.1:p.Asp145=
ENST00000344887.9:c.402C>T ENSP00000341838.5:p.Asp134=
ENST00000585806.5:n.401C>T
ENST00000586669.5:n.410C>T
ENST00000588882.1:c.327C>T ENSP00000466729.1:p.Asp109=
ENST00000589864.1:n.230C>T
NM_000363.4:c.402C>T , LRG_432t1:c.402C>T NP_000354.4:p.Asp134=
NM_000363.5:c.402C>T MANE Select NP_000354.4:p.Asp134=