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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:
CA408061860
Gene: AVP
HGNC
NCBI
Linked Data
dbSNP Id:
rs1223137356
gnomAD v2:
20-3063809-G-A
gnomAD v4:
20-3083163-G-A
MyVariant Identifiers:
chr20:g.3063809G>A (hg19)
chr20:g.3083163G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.3083163G>A , CM000682.2:g.3083163G>A
GRCh38
NC_000020.10:g.3063809G>A , CM000682.1:g.3063809G>A
GRCh37
NC_000020.9:g.3011809G>A
NCBI36
NG_008663.1:g.6562C>T , LRG_715:g.6562C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000380293.3:c.136C>T
MANE Select
ENSP00000369647.3:p.Pro46Ser
NM_000490.4:c.136C>T , LRG_715t1:c.136C>T
NP_000481.2:p.Pro46Ser
XM_011529267.1:c.136C>T
XP_011527569.1:p.Pro46Ser
XM_011529267.2:c.136C>T
XP_011527569.1:p.Pro46Ser
NM_000490.5:c.136C>T
MANE Select
NP_000481.2:p.Pro46Ser
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