Canonical Allele Identifier: CA389006367

Gene: MYH6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23390344T>G , CM000676.2:g.23390344T>G	GRCh38
NC_000014.8:g.23859553T>G , CM000676.1:g.23859553T>G	GRCh37
NC_000014.7:g.22929393T>G	NCBI36
NG_023444.1:g.22934A>C , LRG_389:g.22934A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002471.4:c.3445A>C MANE Select	NP_002462.2:p.Ser1149Arg
ENST00000405093.9:c.3445A>C MANE Select	ENSP00000386041.3:p.Ser1149Arg
NM_002471.3:c.3445A>C , LRG_389t1:c.3445A>C	NP_002462.2:p.Ser1149Arg
ENST00000356287.3:c.3445A>C	ENSP00000348634.3:p.Ser1149Arg
ENST00000405093.7:c.3445A>C	ENSP00000386041.3:p.Ser1149Arg