Canonical Allele Identifier: CA2577951454

Gene: SI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069013T>C , CM000665.2:g.165069013T>C	GRCh38
NC_000003.11:g.164786801T>C , CM000665.1:g.164786801T>C	GRCh37
NC_000003.10:g.166269495T>C	NCBI36
NG_017043.1:g.14483A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.373+65A>G MANE Select	ENSP00000264382.3:n.373+65A>G
ENST00000264382.7:c.373+65A>G	ENSP00000264382.3:n.373+65A>G
ENST00000476593.1:c.*248+65A>G	ENSP00000419450.1:n.*248+65A>G
NM_001041.3:c.373+65A>G	NP_001032.2:n.373+65A>G
XM_011513078.1:c.274+65A>G	XP_011511380.1:n.274+65A>G
XM_011513078.2:c.274+65A>G	XP_011511380.1:n.274+65A>G
NM_001041.4:c.373+65A>G MANE Select	NP_001032.2:n.373+65A>G