Canonical Allele Identifier: CA355035725
Gene: SI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069159A>G , CM000665.2:g.165069159A>G GRCh38
NC_000003.11:g.164786947A>G , CM000665.1:g.164786947A>G GRCh37
NC_000003.10:g.166269641A>G NCBI36
NG_017043.1:g.14337T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.292T>C MANE Select ENSP00000264382.3:p.Trp98Arg
ENST00000264382.7:c.292T>C ENSP00000264382.3:p.Trp98Arg
ENST00000476593.1:c.*167T>C ENSP00000419450.1:n.*167T>C
NM_001041.3:c.292T>C NP_001032.2:p.Trp98Arg
XM_011513078.1:c.193T>C XP_011511380.1:p.Trp65Arg
XM_011513078.2:c.193T>C XP_011511380.1:p.Trp65Arg
NM_001041.4:c.292T>C MANE Select NP_001032.2:p.Trp98Arg