Canonical Allele Identifier: CA7115136

Gene: MYH6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23390206G>T , CM000676.2:g.23390206G>T	GRCh38
NC_000014.8:g.23859415G>T , CM000676.1:g.23859415G>T	GRCh37
NC_000014.7:g.22929255G>T	NCBI36
NG_023444.1:g.23072C>A , LRG_389:g.23072C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002471.4:c.3583C>A MANE Select	NP_002462.2:p.Arg1195Ser
ENST00000405093.9:c.3583C>A MANE Select	ENSP00000386041.3:p.Arg1195Ser
NM_002471.3:c.3583C>A , LRG_389t1:c.3583C>A	NP_002462.2:p.Arg1195Ser
ENST00000356287.3:c.3583C>A	ENSP00000348634.3:p.Arg1195Ser
ENST00000405093.7:c.3583C>A	ENSP00000386041.3:p.Arg1195Ser