Canonical Allele Identifier: CA1417400338
Gene: SI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046901C= , CM000665.2:g.165046901C= GRCh38
NC_000003.11:g.164764689C= , CM000665.1:g.164764689C= GRCh37
NC_000003.10:g.166247383C= NCBI36
NG_017043.1:g.36595G=

Transcript Alleles

HGVS Amino-acid change
ENST00000264382.8:c.1827G= MANE Select ENSP00000264382.3:p.Trp609=
ENST00000264382.7:c.1827G= ENSP00000264382.3:p.Trp609=
NM_001041.3:c.1827G= NP_001032.2:p.Trp609=
XM_011513078.1:c.1728G= XP_011511380.1:p.Trp576=
XM_011513078.2:c.1728G= XP_011511380.1:p.Trp576=
NM_001041.4:c.1827G= MANE Select NP_001032.2:p.Trp609=