Canonical Allele Identifier: CA436947771

Gene: SI

Linked Data

• MyVariant Identifiers: chr3:g.164786879T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069091T>C , CM000665.2:g.165069091T>C	GRCh38
NC_000003.11:g.164786879T>C , CM000665.1:g.164786879T>C	GRCh37
NC_000003.10:g.166269573T>C	NCBI36
NG_017043.1:g.14405A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.360A>G MANE Select	ENSP00000264382.3:p.Thr120=
ENST00000264382.7:c.360A>G	ENSP00000264382.3:p.Thr120=
ENST00000476593.1:c.*235A>G	ENSP00000419450.1:n.*235A>G
NM_001041.3:c.360A>G	NP_001032.2:p.Thr120=
XM_011513078.1:c.261A>G	XP_011511380.1:p.Thr87=
XM_011513078.2:c.261A>G	XP_011511380.1:p.Thr87=
NM_001041.4:c.360A>G MANE Select	NP_001032.2:p.Thr120=