Canonical Allele Identifier: CA1417382077

Gene: SI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069106G= , CM000665.2:g.165069106G=	GRCh38
NC_000003.11:g.164786894G= , CM000665.1:g.164786894G=	GRCh37
NC_000003.10:g.166269588G=	NCBI36
NG_017043.1:g.14390C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.345C= MANE Select	ENSP00000264382.3:p.Asn115=
ENST00000264382.7:c.345C=	ENSP00000264382.3:p.Asn115=
ENST00000476593.1:c.*220C=	ENSP00000419450.1:n.*220C=
NM_001041.3:c.345C=	NP_001032.2:p.Asn115=
XM_011513078.1:c.246C=	XP_011511380.1:p.Asn82=
XM_011513078.2:c.246C=	XP_011511380.1:p.Asn82=
NM_001041.4:c.345C= MANE Select	NP_001032.2:p.Asn115=