Canonical Allele Identifier: CA389005751

Gene: MYH6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23390177C>A , CM000676.2:g.23390177C>A	GRCh38
NC_000014.8:g.23859386C>A , CM000676.1:g.23859386C>A	GRCh37
NC_000014.7:g.22929226C>A	NCBI36
NG_023444.1:g.23101G>T , LRG_389:g.23101G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002471.4:c.3612G>T MANE Select	NP_002462.2:p.Glu1204Asp
ENST00000405093.9:c.3612G>T MANE Select	ENSP00000386041.3:p.Glu1204Asp
NM_002471.3:c.3612G>T , LRG_389t1:c.3612G>T	NP_002462.2:p.Glu1204Asp
ENST00000356287.3:c.3612G>T	ENSP00000348634.3:p.Glu1204Asp
ENST00000405093.7:c.3612G>T	ENSP00000386041.3:p.Glu1204Asp