Canonical Allele Identifier: CA389050254
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427888C>T , CM000676.2:g.23427888C>T GRCh38
NC_000014.8:g.23897097C>T , CM000676.1:g.23897097C>T GRCh37
NC_000014.7:g.22966937C>T NCBI36
NG_007884.1:g.12774G>A , LRG_384:g.12774G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1585G>A MANE Select ENSP00000347507.3:p.Gly529Ser
ENST00000355349.3:c.1585G>A ENSP00000347507.3:p.Gly529Ser
NM_000257.3:c.1585G>A NP_000248.2:p.Gly529Ser
XR_245686.3:n.1691G>A
XM_017021340.1:c.1585G>A XP_016876829.1:p.Gly529Ser
NM_000257.4:c.1585G>A MANE Select NP_000248.2:p.Gly529Ser