Canonical Allele Identifier: CA1417400343

Gene: SI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165046903A= , CM000665.2:g.165046903A=	GRCh38
NC_000003.11:g.164764691A= , CM000665.1:g.164764691A=	GRCh37
NC_000003.10:g.166247385A=	NCBI36
NG_017043.1:g.36593T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.1825T= MANE Select	ENSP00000264382.3:p.Trp609=
ENST00000264382.7:c.1825T=	ENSP00000264382.3:p.Trp609=
NM_001041.3:c.1825T=	NP_001032.2:p.Trp609=
XM_011513078.1:c.1726T=	XP_011511380.1:p.Trp576=
XM_011513078.2:c.1726T=	XP_011511380.1:p.Trp576=
NM_001041.4:c.1825T= MANE Select	NP_001032.2:p.Trp609=