Canonical Allele Identifier: CA2759234684

Gene: SI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165068972A>T , CM000665.2:g.165068972A>T	GRCh38
NC_000003.11:g.164786760A>T , CM000665.1:g.164786760A>T	GRCh37
NC_000003.10:g.166269454A>T	NCBI36
NG_017043.1:g.14524T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.373+106T>A MANE Select	ENSP00000264382.3:n.373+106T>A
ENST00000264382.7:c.373+106T>A	ENSP00000264382.3:n.373+106T>A
ENST00000476593.1:c.*248+106T>A	ENSP00000419450.1:n.*248+106T>A
NM_001041.3:c.373+106T>A	NP_001032.2:n.373+106T>A
XM_011513078.1:c.274+106T>A	XP_011511380.1:n.274+106T>A
XM_011513078.2:c.274+106T>A	XP_011511380.1:n.274+106T>A
NM_001041.4:c.373+106T>A MANE Select	NP_001032.2:n.373+106T>A