Canonical Allele Identifier: CA134251
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 36627
dbSNP Id: rs150415679

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23398866C>T , CM000676.2:g.23398866C>T GRCh38
NC_000014.8:g.23868075C>T , CM000676.1:g.23868075C>T GRCh37
NC_000014.7:g.22937915C>T NCBI36
NG_023444.1:g.14412G>A , LRG_389:g.14412G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.1753G>A MANE Select ENSP00000386041.3:p.Gly585Ser
ENST00000356287.3:c.1753G>A ENSP00000348634.3:p.Gly585Ser
ENST00000405093.7:c.1753G>A ENSP00000386041.3:p.Gly585Ser
NM_002471.3:c.1753G>A , LRG_389t1:c.1753G>A NP_002462.2:p.Gly585Ser
NM_002471.4:c.1753G>A MANE Select NP_002462.2:p.Gly585Ser