Canonical Allele Identifier: CA355035322

Gene: SI

Linked Data

• MyVariant Identifiers: chr3:g.164786887C>T (hg19) ; chr3:g.165069099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069099C>T , CM000665.2:g.165069099C>T	GRCh38
NC_000003.11:g.164786887C>T , CM000665.1:g.164786887C>T	GRCh37
NC_000003.10:g.166269581C>T	NCBI36
NG_017043.1:g.14397G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.352G>A MANE Select	ENSP00000264382.3:p.Asp118Asn
ENST00000264382.7:c.352G>A	ENSP00000264382.3:p.Asp118Asn
ENST00000476593.1:c.*227G>A	ENSP00000419450.1:n.*227G>A
NM_001041.3:c.352G>A	NP_001032.2:p.Asp118Asn
XM_011513078.1:c.253G>A	XP_011511380.1:p.Asp85Asn
XM_011513078.2:c.253G>A	XP_011511380.1:p.Asp85Asn
NM_001041.4:c.352G>A MANE Select	NP_001032.2:p.Asp118Asn