Canonical Allele Identifier: CA355035283

Gene: SI

Linked Data

• MyVariant Identifiers: chr3:g.164786881T>A (hg19) ; chr3:g.165069093T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069093T>A , CM000665.2:g.165069093T>A	GRCh38
NC_000003.11:g.164786881T>A , CM000665.1:g.164786881T>A	GRCh37
NC_000003.10:g.166269575T>A	NCBI36
NG_017043.1:g.14403A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.358A>T MANE Select	ENSP00000264382.3:p.Thr120Ser
ENST00000264382.7:c.358A>T	ENSP00000264382.3:p.Thr120Ser
ENST00000476593.1:c.*233A>T	ENSP00000419450.1:n.*233A>T
NM_001041.3:c.358A>T	NP_001032.2:p.Thr120Ser
XM_011513078.1:c.259A>T	XP_011511380.1:p.Thr87Ser
XM_011513078.2:c.259A>T	XP_011511380.1:p.Thr87Ser
NM_001041.4:c.358A>T MANE Select	NP_001032.2:p.Thr120Ser