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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:
CA404021599
Gene: CDKN2D
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr19:g.10679254G>C (hg19)
chr19:g.10568578G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.10568578G>C , CM000681.2:g.10568578G>C
GRCh38
NC_000019.9:g.10679254G>C , CM000681.1:g.10679254G>C
GRCh37
NC_000019.8:g.10540254G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000393599.3:c.76C>G
MANE Select
ENSP00000377224.1:p.Arg26Gly
ENST00000335766.2:c.76C>G
ENSP00000337056.1:p.Arg26Gly
ENST00000393599.2:c.76C>G
ENSP00000377224.1:p.Arg26Gly
NM_001800.3:c.76C>G
NP_001791.1:p.Arg26Gly
NM_079421.2:c.76C>G
NP_524145.1:p.Arg26Gly
NM_001800.4:c.76C>G
MANE Select
NP_001791.1:p.Arg26Gly
NM_079421.3:c.76C>G
NP_524145.1:p.Arg26Gly
Search 100 bp 5'
Search 100 bp 3'