Canonical Allele Identifier: CA355052185
Gene: SI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046903A>T , CM000665.2:g.165046903A>T GRCh38
NC_000003.11:g.164764691A>T , CM000665.1:g.164764691A>T GRCh37
NC_000003.10:g.166247385A>T NCBI36
NG_017043.1:g.36593T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1825T>A MANE Select ENSP00000264382.3:p.Trp609Arg
ENST00000264382.7:c.1825T>A ENSP00000264382.3:p.Trp609Arg
NM_001041.3:c.1825T>A NP_001032.2:p.Trp609Arg
XM_011513078.1:c.1726T>A XP_011511380.1:p.Trp576Arg
XM_011513078.2:c.1726T>A XP_011511380.1:p.Trp576Arg
NM_001041.4:c.1825T>A MANE Select NP_001032.2:p.Trp609Arg