Canonical Allele Identifier: CA7115432
Community Standard Title: NM_002471.4(MYH6):c.2575G>A (p.Gly859Arg)
Gene: MYH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23394178C>T , CM000676.2:g.23394178C>T GRCh38
NC_000014.8:g.23863387C>T , CM000676.1:g.23863387C>T GRCh37
NC_000014.7:g.22933227C>T NCBI36
NG_023444.1:g.19100G>A , LRG_389:g.19100G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002471.4:c.2575G>A MANE Select NP_002462.2:p.Gly859Arg
ENST00000405093.9:c.2575G>A MANE Select ENSP00000386041.3:p.Gly859Arg
NM_002471.3:c.2575G>A , LRG_389t1:c.2575G>A NP_002462.2:p.Gly859Arg
ENST00000356287.3:c.2575G>A ENSP00000348634.3:p.Gly859Arg
ENST00000405093.7:c.2575G>A ENSP00000386041.3:p.Gly859Arg