Canonical Allele Identifier: CA355035354
Gene: SI HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.164786892A>G (hg19) chr3:g.165069104A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069104A>G , CM000665.2:g.165069104A>G GRCh38
NC_000003.11:g.164786892A>G , CM000665.1:g.164786892A>G GRCh37
NC_000003.10:g.166269586A>G NCBI36
NG_017043.1:g.14392T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.347T>C MANE Select ENSP00000264382.3:p.Val116Ala
ENST00000264382.7:c.347T>C ENSP00000264382.3:p.Val116Ala
ENST00000476593.1:c.*222T>C ENSP00000419450.1:n.*222T>C
NM_001041.3:c.347T>C NP_001032.2:p.Val116Ala
XM_011513078.1:c.248T>C XP_011511380.1:p.Val83Ala
XM_011513078.2:c.248T>C XP_011511380.1:p.Val83Ala
NM_001041.4:c.347T>C MANE Select NP_001032.2:p.Val116Ala
Search 100 bp 5'
Search 100 bp 3'