Canonical Allele Identifier: CA436701738

Gene: SI

Linked Data

• MyVariant Identifiers: chr3:g.164786981T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069193T>G , CM000665.2:g.165069193T>G	GRCh38
NC_000003.11:g.164786981T>G , CM000665.1:g.164786981T>G	GRCh37
NC_000003.10:g.166269675T>G	NCBI36
NG_017043.1:g.14303A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.258A>C MANE Select	ENSP00000264382.3:p.Gly86=
ENST00000264382.7:c.258A>C	ENSP00000264382.3:p.Gly86=
ENST00000476593.1:c.*133A>C	ENSP00000419450.1:n.*133A>C
NM_001041.3:c.258A>C	NP_001032.2:p.Gly86=
XM_011513078.1:c.159A>C	XP_011511380.1:p.Gly53=
XM_011513078.2:c.159A>C	XP_011511380.1:p.Gly53=
NM_001041.4:c.258A>C MANE Select	NP_001032.2:p.Gly86=