Canonical Allele Identifier: CA115001
Gene: SI HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.165069101T>C
GRCh37 chr3:g.164786889T>C
Revel Score:
ENST00000264382 (MANE Select) 0.536
ClinVar RCV:
RCV000001479
ClinVar Variation:
1414
dbSNP:
121912612
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069101T>C , CM000665.2:g.165069101T>C GRCh38
NC_000003.11:g.164786889T>C , CM000665.1:g.164786889T>C GRCh37
NC_000003.10:g.166269583T>C NCBI36
NG_017043.1:g.14395A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.350A>G MANE Select ENSP00000264382.3:p.Gln117Arg
ENST00000264382.7:c.350A>G ENSP00000264382.3:p.Gln117Arg
ENST00000476593.1:c.*225A>G ENSP00000419450.1:n.*225A>G
NM_001041.3:c.350A>G NP_001032.2:p.Gln117Arg
XM_011513078.1:c.251A>G XP_011511380.1:p.Gln84Arg
XM_011513078.2:c.251A>G XP_011511380.1:p.Gln84Arg
NM_001041.4:c.350A>G MANE Select NP_001032.2:p.Gln117Arg
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