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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:
CA378040545
Gene: CALHM1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr10:g.105218168C>A (hg19)
chr10:g.103458411C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.103458411C>A , CM000672.2:g.103458411C>A
GRCh38
NC_000010.10:g.105218168C>A , CM000672.1:g.105218168C>A
GRCh37
NC_000010.9:g.105208158C>A
NCBI36
NG_016855.1:g.5481G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000329905.6:c.341G>T
MANE Select
ENSP00000329926.6:p.Trp114Leu
ENST00000329905.5:c.341G>T
ENSP00000329926.5:p.Trp114Leu
NM_001001412.3:c.341G>T
NP_001001412.3:p.Trp114Leu
NM_001001412.4:c.341G>T
MANE Select
NP_001001412.3:p.Trp114Leu
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