Canonical Allele Identifier: CA1417304020

Gene: SI

Linked Data

• dbSNP Id: rs1175573028

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.164996805T>G , CM000665.2:g.164996805T>G	GRCh38
NC_000003.11:g.164714593T>G , CM000665.1:g.164714593T>G	GRCh37
NC_000003.10:g.166197287T>G	NCBI36
NG_017043.1:g.86691A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.4541-33A>C MANE Select	ENSP00000264382.3:n.4541-33A>C
ENST00000264382.7:c.4541-33A>C	ENSP00000264382.3:n.4541-33A>C
NM_001041.3:c.4541-33A>C	NP_001032.2:n.4541-33A>C
XM_011513078.1:c.4442-33A>C	XP_011511380.1:n.4442-33A>C
XM_011513078.2:c.4442-33A>C	XP_011511380.1:n.4442-33A>C
NM_001041.4:c.4541-33A>C MANE Select	NP_001032.2:n.4541-33A>C