Canonical Allele Identifier: CA389011867
Gene: MYH6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393695C>T , CM000676.2:g.23393695C>T GRCh38
NC_000014.8:g.23862904C>T , CM000676.1:g.23862904C>T GRCh37
NC_000014.7:g.22932744C>T NCBI36
NG_023444.1:g.19583G>A , LRG_389:g.19583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2899G>A MANE Select ENSP00000386041.3:p.Glu967Lys
ENST00000356287.3:c.2899G>A ENSP00000348634.3:p.Glu967Lys
ENST00000405093.7:c.2899G>A ENSP00000386041.3:p.Glu967Lys
NM_002471.3:c.2899G>A , LRG_389t1:c.2899G>A NP_002462.2:p.Glu967Lys
NM_002471.4:c.2899G>A MANE Select NP_002462.2:p.Glu967Lys