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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:
CA351623407
Gene: WNT7A
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr3:g.13896282A>C (hg19)
chr3:g.13854785A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.13854785A>C , CM000665.2:g.13854785A>C
GRCh38
NC_000003.11:g.13896282A>C , CM000665.1:g.13896282A>C
GRCh37
NC_000003.10:g.13871283A>C
NCBI36
NG_008088.1:g.30337T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000285018.5:c.317T>G
MANE Select
ENSP00000285018.4:p.Phe106Cys
ENST00000285018.4:c.317T>G
ENSP00000285018.4:p.Phe106Cys
NM_004625.3:c.317T>G
NP_004616.2:p.Phe106Cys
XM_011534090.1:c.116T>G
XP_011532392.1:p.Phe39Cys
XM_011534091.1:c.116T>G
XP_011532393.1:p.Phe39Cys
XM_011534091.2:c.116T>G
XP_011532393.1:p.Phe39Cys
NM_004625.4:c.317T>G
MANE Select
NP_004616.2:p.Phe106Cys
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