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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:
CA355052184
Gene: SI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2192719
ClinVar RCV Id:
RCV002643804
dbSNP Id:
rs1458541922
gnomAD v2:
3-164764691-A-G
gnomAD v3:
3-165046903-A-G
gnomAD v4:
3-165046903-A-G
COSMIC:
COSM3733285
MyVariant Identifiers:
chr3:g.164764691A>G (hg19)
chr3:g.165046903A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.165046903A>G , CM000665.2:g.165046903A>G
GRCh38
NC_000003.11:g.164764691A>G , CM000665.1:g.164764691A>G
GRCh37
NC_000003.10:g.166247385A>G
NCBI36
NG_017043.1:g.36593T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264382.8:c.1825T>C
MANE Select
ENSP00000264382.3:p.Trp609Arg
ENST00000264382.7:c.1825T>C
ENSP00000264382.3:p.Trp609Arg
NM_001041.3:c.1825T>C
NP_001032.2:p.Trp609Arg
XM_011513078.1:c.1726T>C
XP_011511380.1:p.Trp576Arg
XM_011513078.2:c.1726T>C
XP_011511380.1:p.Trp576Arg
NM_001041.4:c.1825T>C
MANE Select
NP_001032.2:p.Trp609Arg
Search 100 bp 5'
Search 100 bp 3'