Canonical Allele Identifier: CA021546
Gene: TNNI3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.55154745G>A
GRCh37 chr19:g.55666113G>A
Revel Score:
ENST00000344887 (MANE Select) 0.301
gnomAD v2:
19:55666113 G / A
gnomAD v3:
19:55154745 G / A
gnomAD v4:
chr19-55154745-G-A
Joint Max Group AF 0.00001063 (AFR)
Genomes Max Group AF 0.00000799 (AFR)
Exomes Max Group AF 0.00000381 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154745G>A , CM000681.2:g.55154745G>A GRCh38
NC_000019.9:g.55666113G>A , CM000681.1:g.55666113G>A GRCh37
NC_000019.8:g.60357925G>A NCBI36
NG_007866.2:g.7988C>T , LRG_432:g.7988C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.368C>T MANE Select ENSP00000341838.5:p.Thr123Met
ENST00000665070.1:c.368C>T ENSP00000499482.1:p.Thr123Met
ENST00000344887.9:c.368C>T ENSP00000341838.5:p.Thr123Met
ENST00000585806.5:n.367C>T
ENST00000586669.5:n.376C>T
ENST00000587176.5:n.552C>T
ENST00000588882.1:c.293C>T ENSP00000466729.1:p.Thr98Met
NM_000363.4:c.368C>T , LRG_432t1:c.368C>T NP_000354.4:p.Thr123Met
NM_000363.5:c.368C>T MANE Select NP_000354.4:p.Thr123Met
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