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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:
CA408061496
Gene: AVP
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr20:g.3063635A>T (hg19)
chr20:g.3082989A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.3082989A>T , CM000682.2:g.3082989A>T
GRCh38
NC_000020.10:g.3063635A>T , CM000682.1:g.3063635A>T
GRCh37
NC_000020.9:g.3011635A>T
NCBI36
NG_008663.1:g.6736T>A , LRG_715:g.6736T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000380293.3:c.310T>A
MANE Select
ENSP00000369647.3:p.Cys104Ser
NM_000490.4:c.310T>A , LRG_715t1:c.310T>A
NP_000481.2:p.Cys104Ser
XM_011529267.1:c.310T>A
XP_011527569.1:p.Cys104Ser
XM_011529267.2:c.310T>A
XP_011527569.1:p.Cys104Ser
NM_000490.5:c.310T>A
MANE Select
NP_000481.2:p.Cys104Ser
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