Canonical Allele Identifier: CA1417304022

Gene: SI

Linked Data

• dbSNP Id: rs1718035000

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.164996807T>C , CM000665.2:g.164996807T>C	GRCh38
NC_000003.11:g.164714595T>C , CM000665.1:g.164714595T>C	GRCh37
NC_000003.10:g.166197289T>C	NCBI36
NG_017043.1:g.86689A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.4541-35A>G MANE Select	ENSP00000264382.3:n.4541-35A>G
ENST00000264382.7:c.4541-35A>G	ENSP00000264382.3:n.4541-35A>G
NM_001041.3:c.4541-35A>G	NP_001032.2:n.4541-35A>G
XM_011513078.1:c.4442-35A>G	XP_011511380.1:n.4442-35A>G
XM_011513078.2:c.4442-35A>G	XP_011511380.1:n.4442-35A>G
NM_001041.4:c.4541-35A>G MANE Select	NP_001032.2:n.4541-35A>G