Canonical Allele Identifier: CA1417382048

Gene: SI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069101T= , CM000665.2:g.165069101T=	GRCh38
NC_000003.11:g.164786889T= , CM000665.1:g.164786889T=	GRCh37
NC_000003.10:g.166269583T=	NCBI36
NG_017043.1:g.14395A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.350A= MANE Select	ENSP00000264382.3:p.Gln117=
ENST00000264382.7:c.350A=	ENSP00000264382.3:p.Gln117=
ENST00000476593.1:c.*225A=	ENSP00000419450.1:n.*225A=
NM_001041.3:c.350A=	NP_001032.2:p.Gln117=
XM_011513078.1:c.251A=	XP_011511380.1:p.Gln84=
XM_011513078.2:c.251A=	XP_011511380.1:p.Gln84=
NM_001041.4:c.350A= MANE Select	NP_001032.2:p.Gln117=