Canonical Allele Identifier: CA407442410
Community Standard Title: NM_000363.5(TNNI3):c.130T>G (p.Ser44Ala)
Gene: TNNI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55156623A>C , CM000681.2:g.55156623A>C GRCh38
NC_000019.9:g.55667991A>C , CM000681.1:g.55667991A>C GRCh37
NC_000019.8:g.60359803A>C NCBI36
NG_007866.2:g.6110T>G , LRG_432:g.6110T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000363.5:c.130T>G MANE Select NP_000354.4:p.Ser44Ala
ENST00000344887.10:c.130T>G MANE Select ENSP00000341838.5:p.Ser44Ala
NM_000363.4:c.130T>G , LRG_432t1:c.130T>G NP_000354.4:p.Ser44Ala
ENST00000344887.9:c.130T>G ENSP00000341838.5:p.Ser44Ala
ENST00000586669.5:n.138T>G
ENST00000586858.1:c.55T>G ENSP00000465258.1:p.Ser19Ala
ENST00000587176.5:n.314T>G
ENST00000587871.1:c.749T>G
ENST00000588882.1:c.55T>G ENSP00000466729.1:p.Ser19Ala
ENST00000590463.1:n.302T>G
ENST00000665070.1:c.130T>G ENSP00000499482.1:p.Ser44Ala