Canonical Allele Identifier: CA7115550

Gene: MYH6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23396797A>G , CM000676.2:g.23396797A>G	GRCh38
NC_000014.8:g.23866006A>G , CM000676.1:g.23866006A>G	GRCh37
NC_000014.7:g.22935846A>G	NCBI36
NG_023444.1:g.16481T>C , LRG_389:g.16481T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002471.4:c.2189T>C MANE Select	NP_002462.2:p.Val730Ala
ENST00000405093.9:c.2189T>C MANE Select	ENSP00000386041.3:p.Val730Ala
NM_002471.3:c.2189T>C , LRG_389t1:c.2189T>C	NP_002462.2:p.Val730Ala
ENST00000356287.3:c.2189T>C	ENSP00000348634.3:p.Val730Ala
ENST00000405093.7:c.2189T>C	ENSP00000386041.3:p.Val730Ala