Canonical Allele Identifier: CA389011513
Gene: MYH6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393515T>C , CM000676.2:g.23393515T>C GRCh38
NC_000014.8:g.23862724T>C , CM000676.1:g.23862724T>C GRCh37
NC_000014.7:g.22932564T>C NCBI36
NG_023444.1:g.19763A>G , LRG_389:g.19763A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2932A>G MANE Select ENSP00000386041.3:p.Lys978Glu
ENST00000356287.3:c.2932A>G ENSP00000348634.3:p.Lys978Glu
ENST00000405093.7:c.2932A>G ENSP00000386041.3:p.Lys978Glu
NM_002471.3:c.2932A>G , LRG_389t1:c.2932A>G NP_002462.2:p.Lys978Glu
NM_002471.4:c.2932A>G MANE Select NP_002462.2:p.Lys978Glu