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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:
CA2294857
Gene: STT3B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
506931
ClinVar RCV Id:
RCV000613152
dbSNP Id:
rs771673958
ExAC:
3:31574535 C / T
gnomAD v2:
3-31574535-C-T
gnomAD v3:
3-31533043-C-T
gnomAD v4:
3-31533043-C-T
MyVariant Identifiers:
chr3:g.31574535C>T (hg19)
chr3:g.31533043C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.31533043C>T , CM000665.2:g.31533043C>T
GRCh38
NC_000003.11:g.31574535C>T , CM000665.1:g.31574535C>T
GRCh37
NC_000003.10:g.31549539C>T
NCBI36
NG_034164.1:g.5543C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000295770.4:c.45C>T
MANE Select
ENSP00000295770.2:p.Leu15=
ENST00000295770.3:c.45C>T
ENSP00000295770.2:p.Leu15=
ENST00000423527.5:n.72C>T
ENST00000453168.5:n.406C>T
NM_178862.2:c.45C>T
NP_849193.1:p.Leu15=
XM_011533465.1:c.45C>T
XP_011531767.1:p.Leu15=
XM_017005857.2:c.45C>T
XP_016861346.1:p.Leu15=
NM_178862.3:c.45C>T
MANE Select
NP_849193.1:p.Leu15=
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