Canonical Allele Identifier: CA389014234
Community Standard Title: NM_002471.4(MYH6):c.2575G>C (p.Gly859Arg)
Gene: MYH6 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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