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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:
CA121963
Gene: AVP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12214
ClinVar RCV Id:
RCV000012998
dbSNP Id:
rs121964888
MyVariant Identifiers:
chr20:g.3063785C>G (hg19)
chr20:g.3083139C>G (hg38)
PubMed:
PMID:9467595
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.3083139C>G , CM000682.2:g.3083139C>G
GRCh38
NC_000020.10:g.3063785C>G , CM000682.1:g.3063785C>G
GRCh37
NC_000020.9:g.3011785C>G
NCBI36
NG_008663.1:g.6586G>C , LRG_715:g.6586G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000380293.3:c.160G>C
MANE Select
ENSP00000369647.3:p.Gly54Arg
NM_000490.4:c.160G>C , LRG_715t1:c.160G>C
NP_000481.2:p.Gly54Arg
XM_011529267.1:c.160G>C
XP_011527569.1:p.Gly54Arg
XM_011529267.2:c.160G>C
XP_011527569.1:p.Gly54Arg
NM_000490.5:c.160G>C
MANE Select
NP_000481.2:p.Gly54Arg
Search 100 bp 5'
Search 100 bp 3'