Canonical Allele Identifier: CA355030046

Gene: SI

Linked Data

• MyVariant Identifiers: chr3:g.164714551T>A (hg19) ; chr3:g.164996763T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.164996763T>A , CM000665.2:g.164996763T>A	GRCh38
NC_000003.11:g.164714551T>A , CM000665.1:g.164714551T>A	GRCh37
NC_000003.10:g.166197245T>A	NCBI36
NG_017043.1:g.86733A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.4550A>T MANE Select	ENSP00000264382.3:p.Glu1517Val
ENST00000264382.7:c.4550A>T	ENSP00000264382.3:p.Glu1517Val
NM_001041.3:c.4550A>T	NP_001032.2:p.Glu1517Val
XM_011513078.1:c.4451A>T	XP_011511380.1:p.Glu1484Val
XM_011513078.2:c.4451A>T	XP_011511380.1:p.Glu1484Val
NM_001041.4:c.4550A>T MANE Select	NP_001032.2:p.Glu1517Val