Canonical Allele Identifier: CA355035417

Gene: SI

Linked Data

• MyVariant Identifiers: chr3:g.164786901C>T (hg19) ; chr3:g.165069113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069113C>T , CM000665.2:g.165069113C>T	GRCh38
NC_000003.11:g.164786901C>T , CM000665.1:g.164786901C>T	GRCh37
NC_000003.10:g.166269595C>T	NCBI36
NG_017043.1:g.14383G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.338G>A MANE Select	ENSP00000264382.3:p.Gly113Asp
ENST00000264382.7:c.338G>A	ENSP00000264382.3:p.Gly113Asp
ENST00000476593.1:c.*213G>A	ENSP00000419450.1:n.*213G>A
NM_001041.3:c.338G>A	NP_001032.2:p.Gly113Asp
XM_011513078.1:c.239G>A	XP_011511380.1:p.Gly80Asp
XM_011513078.2:c.239G>A	XP_011511380.1:p.Gly80Asp
NM_001041.4:c.338G>A MANE Select	NP_001032.2:p.Gly113Asp