Canonical Allele Identifier: CA1417382140

Gene: SI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069133G= , CM000665.2:g.165069133G=	GRCh38
NC_000003.11:g.164786921G= , CM000665.1:g.164786921G=	GRCh37
NC_000003.10:g.166269615G=	NCBI36
NG_017043.1:g.14363C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.318C= MANE Select	ENSP00000264382.3:p.Cys106=
ENST00000264382.7:c.318C=	ENSP00000264382.3:p.Cys106=
ENST00000476593.1:c.*193C=	ENSP00000419450.1:n.*193C=
NM_001041.3:c.318C=	NP_001032.2:p.Cys106=
XM_011513078.1:c.219C=	XP_011511380.1:p.Cys73=
XM_011513078.2:c.219C=	XP_011511380.1:p.Cys73=
NM_001041.4:c.318C= MANE Select	NP_001032.2:p.Cys106=