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ClinGen Allele Registry
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Canonical Allele Identifier:
CA16619852
Community Standard Title: NM_000257.4(MYH7):c.2209G>T (p.Asp737Tyr)
Gene: MYH7
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23425772C>A , CM000676.2:g.23425772C>A
GRCh38
NC_000014.8:g.23894981C>A , CM000676.1:g.23894981C>A
GRCh37
NC_000014.7:g.22964821C>A
NCBI36
NG_007884.1:g.14890G>T , LRG_384:g.14890G>T
Transcript Alleles
HGVS
Amino-acid Change
NM_000257.4:c.2209G>T
MANE Select
NP_000248.2:p.Asp737Tyr
ENST00000355349.4:c.2209G>T
MANE Select
ENSP00000347507.3:p.Asp737Tyr
NM_000257.3:c.2209G>T
NP_000248.2:p.Asp737Tyr
ENST00000355349.3:c.2209G>T
ENSP00000347507.3:p.Asp737Tyr
XM_017021340.1:c.2209G>T
XP_016876829.1:p.Asp737Tyr
XR_245686.3:n.2315G>T
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