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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:
CA430205443
Gene: PDE11A
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.178879089A>T (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.178014362A>T , CM000664.2:g.178014362A>T
GRCh38
NC_000002.11:g.178879089A>T , CM000664.1:g.178879089A>T
GRCh37
NC_000002.10:g.178587335A>T
NCBI36
NG_012168.1:g.98978T>A
NG_012168.2:g.98978T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000286063.11:c.1011T>A
MANE Select
ENSP00000286063.5:p.Gly337=
ENST00000286063.10:c.1011T>A
ENSP00000286063.5:p.Gly337=
ENST00000358450.8:c.261T>A
ENSP00000351232.4:p.Gly87=
NM_001077197.1:c.261T>A
NP_001070665.1:p.Gly87=
NM_016953.3:c.1011T>A
NP_058649.3:p.Gly337=
NM_016953.4:c.1011T>A
MANE Select
NP_058649.3:p.Gly337=
NM_001077197.2:c.261T>A
NP_001070665.1:p.Gly87=
Search 100 bp 5'
Search 100 bp 3'