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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:
CA404021629
Gene: CDKN2D
HGNC
NCBI
Linked Data
dbSNP Id:
rs1319415011
gnomAD v2:
19-10679261-C-A
gnomAD v4:
19-10568585-C-A
MyVariant Identifiers:
chr19:g.10679261C>A (hg19)
chr19:g.10568585C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.10568585C>A , CM000681.2:g.10568585C>A
GRCh38
NC_000019.9:g.10679261C>A , CM000681.1:g.10679261C>A
GRCh37
NC_000019.8:g.10540261C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000393599.3:c.69G>T
MANE Select
ENSP00000377224.1:p.Glu23Asp
ENST00000335766.2:c.69G>T
ENSP00000337056.1:p.Glu23Asp
ENST00000393599.2:c.69G>T
ENSP00000377224.1:p.Glu23Asp
NM_001800.3:c.69G>T
NP_001791.1:p.Glu23Asp
NM_079421.2:c.69G>T
NP_524145.1:p.Glu23Asp
NM_001800.4:c.69G>T
MANE Select
NP_001791.1:p.Glu23Asp
NM_079421.3:c.69G>T
NP_524145.1:p.Glu23Asp
Search 100 bp 5'
Search 100 bp 3'