Canonical Allele Identifier: CA2668425536
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-165069025-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069025T>A , CM000665.2:g.165069025T>A GRCh38
NC_000003.11:g.164786813T>A , CM000665.1:g.164786813T>A GRCh37
NC_000003.10:g.166269507T>A NCBI36
NG_017043.1:g.14471A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.373+53A>T MANE Select ENSP00000264382.3:n.373+53A>T
ENST00000264382.7:c.373+53A>T ENSP00000264382.3:n.373+53A>T
ENST00000476593.1:c.*248+53A>T ENSP00000419450.1:n.*248+53A>T
NM_001041.3:c.373+53A>T NP_001032.2:n.373+53A>T
XM_011513078.1:c.274+53A>T XP_011511380.1:n.274+53A>T
XM_011513078.2:c.274+53A>T XP_011511380.1:n.274+53A>T
NM_001041.4:c.373+53A>T MANE Select NP_001032.2:n.373+53A>T
Search 100 bp 5'
Search 100 bp 3'