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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:
CA354898429
Gene: ZIC1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr3:g.147131174T>C (hg19)
chr3:g.147413387T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.147413387T>C , CM000665.2:g.147413387T>C
GRCh38
NC_000003.11:g.147131174T>C , CM000665.1:g.147131174T>C
GRCh37
NC_000003.10:g.148613864T>C
NCBI36
NG_015886.1:g.8994T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000282928.5:c.1180T>C
MANE Select
ENSP00000282928.4:p.Ser394Pro
ENST00000282928.4:c.1180T>C
ENSP00000282928.4:p.Ser394Pro
ENST00000472523.1:n.521+19445T>C
ENST00000488404.5:c.246T>C
NM_003412.3:c.1180T>C
NP_003403.2:p.Ser394Pro
NM_003412.4:c.1180T>C
MANE Select
NP_003403.2:p.Ser394Pro
Search 100 bp 5'
Search 100 bp 3'