Canonical Allele Identifier: CA2691538
Gene: SI HGNC NCBI

Linked Data

ClinVar Variation Id: 1553819
ClinVar RCV Id: RCV002180622 RCV003355798
dbSNP Id: rs376103595
ExAC: 3:164786875 T / C
gnomAD v2: 3-164786875-T-C
gnomAD v3: 3-165069087-T-C
gnomAD v4: 3-165069087-T-C
MyVariant Identifiers: chr3:g.164786875T>C (hg19) chr3:g.165069087T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069087T>C , CM000665.2:g.165069087T>C GRCh38
NC_000003.11:g.164786875T>C , CM000665.1:g.164786875T>C GRCh37
NC_000003.10:g.166269569T>C NCBI36
NG_017043.1:g.14409A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.364A>G MANE Select ENSP00000264382.3:p.Thr122Ala
ENST00000264382.7:c.364A>G ENSP00000264382.3:p.Thr122Ala
ENST00000476593.1:c.*239A>G ENSP00000419450.1:n.*239A>G
NM_001041.3:c.364A>G NP_001032.2:p.Thr122Ala
XM_011513078.1:c.265A>G XP_011511380.1:p.Thr89Ala
XM_011513078.2:c.265A>G XP_011511380.1:p.Thr89Ala
NM_001041.4:c.364A>G MANE Select NP_001032.2:p.Thr122Ala
Search 100 bp 5'
Search 100 bp 3'