Canonical Allele Identifier: CA1417381797
Gene: SI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165068935A= , CM000665.2:g.165068935A= GRCh38
NC_000003.11:g.164786723A= , CM000665.1:g.164786723A= GRCh37
NC_000003.10:g.166269417A= NCBI36
NG_017043.1:g.14561T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.374-104T= MANE Select ENSP00000264382.3:n.374-104T=
ENST00000264382.7:c.374-104T= ENSP00000264382.3:n.374-104T=
ENST00000476593.1:c.*249-104T= ENSP00000419450.1:n.*249-104T=
NM_001041.3:c.374-104T= NP_001032.2:n.374-104T=
XM_011513078.1:c.275-104T= XP_011511380.1:n.275-104T=
XM_011513078.2:c.275-104T= XP_011511380.1:n.275-104T=
NM_001041.4:c.374-104T= MANE Select NP_001032.2:n.374-104T=