Canonical Allele Identifier: CA7116098

Gene: MYH6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23404718G>A , CM000676.2:g.23404718G>A	GRCh38
NC_000014.8:g.23873927G>A , CM000676.1:g.23873927G>A	GRCh37
NC_000014.7:g.22943767G>A	NCBI36
NG_023444.1:g.8560C>T , LRG_389:g.8560C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002471.4:c.635C>T MANE Select	NP_002462.2:p.Ala212Val
ENST00000405093.9:c.635C>T MANE Select	ENSP00000386041.3:p.Ala212Val
NM_002471.3:c.635C>T , LRG_389t1:c.635C>T	NP_002462.2:p.Ala212Val
ENST00000356287.3:c.635C>T	ENSP00000348634.3:p.Ala212Val
ENST00000405093.7:c.635C>T	ENSP00000386041.3:p.Ala212Val
ENST00000557461.1:n.689C>T
ENST00000557461.2:n.702C>T