Canonical Allele Identifier: CA2575485969
Gene: MYH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23392871G>A , CM000676.2:g.23392871G>A GRCh38
NC_000014.8:g.23862080G>A , CM000676.1:g.23862080G>A GRCh37
NC_000014.7:g.22931920G>A NCBI36
NG_023444.1:g.20407C>T , LRG_389:g.20407C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.3251+41C>T MANE Select ENSP00000386041.3:n.3251+41C>T
ENST00000356287.3:c.3251+41C>T ENSP00000348634.3:n.3251+41C>T
ENST00000405093.7:c.3251+41C>T ENSP00000386041.3:n.3251+41C>T
NM_002471.3:c.3251+41C>T , LRG_389t1:c.3251+41C>T NP_002462.2:n.3251+41C>T
NM_002471.4:c.3251+41C>T MANE Select NP_002462.2:n.3251+41C>T