Canonical Allele Identifier: CA355035741

Gene: SI

Linked Data

• MyVariant Identifiers: chr3:g.164786952C>A (hg19) ; chr3:g.165069164C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069164C>A , CM000665.2:g.165069164C>A	GRCh38
NC_000003.11:g.164786952C>A , CM000665.1:g.164786952C>A	GRCh37
NC_000003.10:g.166269646C>A	NCBI36
NG_017043.1:g.14332G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.287G>T MANE Select	ENSP00000264382.3:p.Arg96Met
ENST00000264382.7:c.287G>T	ENSP00000264382.3:p.Arg96Met
ENST00000476593.1:c.*162G>T	ENSP00000419450.1:n.*162G>T
NM_001041.3:c.287G>T	NP_001032.2:p.Arg96Met
XM_011513078.1:c.188G>T	XP_011511380.1:p.Arg63Met
XM_011513078.2:c.188G>T	XP_011511380.1:p.Arg63Met
NM_001041.4:c.287G>T MANE Select	NP_001032.2:p.Arg96Met