Canonical Allele Identifier: CA485765765

Gene: MYH6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23405648G>T , CM000676.2:g.23405648G>T	GRCh38
NC_000014.8:g.23874857G>T , CM000676.1:g.23874857G>T	GRCh37
NC_000014.7:g.22944697G>T	NCBI36
NG_023444.1:g.7630C>A , LRG_389:g.7630C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002471.4:c.324C>A MANE Select	NP_002462.2:p.Arg108=
ENST00000405093.9:c.324C>A MANE Select	ENSP00000386041.3:p.Arg108=
NM_002471.3:c.324C>A , LRG_389t1:c.324C>A	NP_002462.2:p.Arg108=
ENST00000356287.3:c.324C>A	ENSP00000348634.3:p.Arg108=
ENST00000405093.7:c.324C>A	ENSP00000386041.3:p.Arg108=
ENST00000557461.1:n.378C>A
ENST00000557461.2:n.391C>A