Canonical Allele Identifier: CA355035595

Gene: SI

Linked Data

• MyVariant Identifiers: chr3:g.164786922C>A (hg19) ; chr3:g.165069134C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069134C>A , CM000665.2:g.165069134C>A	GRCh38
NC_000003.11:g.164786922C>A , CM000665.1:g.164786922C>A	GRCh37
NC_000003.10:g.166269616C>A	NCBI36
NG_017043.1:g.14362G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.317G>T MANE Select	ENSP00000264382.3:p.Cys106Phe
ENST00000264382.7:c.317G>T	ENSP00000264382.3:p.Cys106Phe
ENST00000476593.1:c.*192G>T	ENSP00000419450.1:n.*192G>T
NM_001041.3:c.317G>T	NP_001032.2:p.Cys106Phe
XM_011513078.1:c.218G>T	XP_011511380.1:p.Cys73Phe
XM_011513078.2:c.218G>T	XP_011511380.1:p.Cys73Phe
NM_001041.4:c.317G>T MANE Select	NP_001032.2:p.Cys106Phe