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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA389052064
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
925648
ClinVar RCV Id:
RCV001187730
dbSNP Id:
rs1892932955
MyVariant Identifiers:
chr14:g.23900641G>A (hg19)
chr14:g.23431432G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23431432G>A , CM000676.2:g.23431432G>A
GRCh38
NC_000014.8:g.23900641G>A , CM000676.1:g.23900641G>A
GRCh37
NC_000014.7:g.22970481G>A
NCBI36
NG_007884.1:g.9230C>T , LRG_384:g.9230C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.782C>T
MANE Select
ENSP00000347507.3:p.Ala261Val
ENST00000355349.3:c.782C>T
ENSP00000347507.3:p.Ala261Val
NM_000257.3:c.782C>T
NP_000248.2:p.Ala261Val
XR_245686.3:n.888C>T
XM_017021340.1:c.782C>T
XP_016876829.1:p.Ala261Val
NM_000257.4:c.782C>T
MANE Select
NP_000248.2:p.Ala261Val
Search 100 bp 5'
Search 100 bp 3'