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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:
CA16609034
Gene: AVP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383370
ClinVar RCV Id:
RCV000440799
RCV002051851
RCV003884524
dbSNP Id:
rs1057521601
gnomAD v4:
20-3082796-C-T
MyVariant Identifiers:
chr20:g.3063442C>T (hg19)
chr20:g.3082796C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.3082796C>T , CM000682.2:g.3082796C>T
GRCh38
NC_000020.10:g.3063442C>T , CM000682.1:g.3063442C>T
GRCh37
NC_000020.9:g.3011442C>T
NCBI36
NG_008663.1:g.6929G>A , LRG_715:g.6929G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000380293.3:c.329G>A
MANE Select
ENSP00000369647.3:p.Cys110Tyr
NM_000490.4:c.329G>A , LRG_715t1:c.329G>A
NP_000481.2:p.Cys110Tyr
XM_011529267.1:c.329G>A
XP_011527569.1:p.Cys110Tyr
XM_011529267.2:c.329G>A
XP_011527569.1:p.Cys110Tyr
NM_000490.5:c.329G>A
MANE Select
NP_000481.2:p.Cys110Tyr
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