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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:
CA351623398
Gene: WNT7A
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr3:g.13896277A>C (hg19)
chr3:g.13854780A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.13854780A>C , CM000665.2:g.13854780A>C
GRCh38
NC_000003.11:g.13896277A>C , CM000665.1:g.13896277A>C
GRCh37
NC_000003.10:g.13871278A>C
NCBI36
NG_008088.1:g.30342T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000285018.5:c.322T>G
MANE Select
ENSP00000285018.4:p.Tyr108Asp
ENST00000285018.4:c.322T>G
ENSP00000285018.4:p.Tyr108Asp
NM_004625.3:c.322T>G
NP_004616.2:p.Tyr108Asp
XM_011534090.1:c.121T>G
XP_011532392.1:p.Tyr41Asp
XM_011534091.1:c.121T>G
XP_011532393.1:p.Tyr41Asp
XM_011534091.2:c.121T>G
XP_011532393.1:p.Tyr41Asp
NM_004625.4:c.322T>G
MANE Select
NP_004616.2:p.Tyr108Asp
Search 100 bp 5'
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