Canonical Allele Identifier: CA2800874674
Gene: MYH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393573T>C , CM000676.2:g.23393573T>C GRCh38
NC_000014.8:g.23862782T>C , CM000676.1:g.23862782T>C GRCh37
NC_000014.7:g.22932622T>C NCBI36
NG_023444.1:g.19705A>G , LRG_389:g.19705A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2929-55A>G MANE Select ENSP00000386041.3:n.2929-55A>G
ENST00000356287.3:c.2929-55A>G ENSP00000348634.3:n.2929-55A>G
ENST00000405093.7:c.2929-55A>G ENSP00000386041.3:n.2929-55A>G
NM_002471.3:c.2929-55A>G , LRG_389t1:c.2929-55A>G NP_002462.2:n.2929-55A>G
NM_002471.4:c.2929-55A>G MANE Select NP_002462.2:n.2929-55A>G