Canonical Allele Identifier: CA355035225

Gene: SI

Linked Data

• dbSNP Id: rs2108100784
• MyVariant Identifiers: chr3:g.164786871C>A (hg19) ; chr3:g.165069083C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069083C>A , CM000665.2:g.165069083C>A	GRCh38
NC_000003.11:g.164786871C>A , CM000665.1:g.164786871C>A	GRCh37
NC_000003.10:g.166269565C>A	NCBI36
NG_017043.1:g.14413G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.368G>T MANE Select	ENSP00000264382.3:p.Ser123Ile
ENST00000264382.7:c.368G>T	ENSP00000264382.3:p.Ser123Ile
ENST00000476593.1:c.*243G>T	ENSP00000419450.1:n.*243G>T
NM_001041.3:c.368G>T	NP_001032.2:p.Ser123Ile
XM_011513078.1:c.269G>T	XP_011511380.1:p.Ser90Ile
XM_011513078.2:c.269G>T	XP_011511380.1:p.Ser90Ile
NM_001041.4:c.368G>T MANE Select	NP_001032.2:p.Ser123Ile