Canonical Allele Identifier: CA1417303979
Gene: SI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996749C= , CM000665.2:g.164996749C= GRCh38
NC_000003.11:g.164714537C= , CM000665.1:g.164714537C= GRCh37
NC_000003.10:g.166197231C= NCBI36
NG_017043.1:g.86747G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.4564G= MANE Select ENSP00000264382.3:p.Gly1522=
ENST00000264382.7:c.4564G= ENSP00000264382.3:p.Gly1522=
NM_001041.3:c.4564G= NP_001032.2:p.Gly1522=
XM_011513078.1:c.4465G= XP_011511380.1:p.Gly1489=
XM_011513078.2:c.4465G= XP_011511380.1:p.Gly1489=
NM_001041.4:c.4564G= MANE Select NP_001032.2:p.Gly1522=