Canonical Allele Identifier: CA389012108

Gene: MYH6

Linked Data

• MyVariant Identifiers: chr14:g.23862942T>A (hg19) ; chr14:g.23393733T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23393733T>A , CM000676.2:g.23393733T>A	GRCh38
NC_000014.8:g.23862942T>A , CM000676.1:g.23862942T>A	GRCh37
NC_000014.7:g.22932782T>A	NCBI36
NG_023444.1:g.19545A>T , LRG_389:g.19545A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.2861A>T MANE Select	ENSP00000386041.3:p.Lys954Met
ENST00000356287.3:c.2861A>T	ENSP00000348634.3:p.Lys954Met
ENST00000405093.7:c.2861A>T	ENSP00000386041.3:p.Lys954Met
NM_002471.3:c.2861A>T , LRG_389t1:c.2861A>T	NP_002462.2:p.Lys954Met
NM_002471.4:c.2861A>T MANE Select	NP_002462.2:p.Lys954Met