Canonical Allele Identifier: CA1417381906
Gene: SI HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069030C= , CM000665.2:g.165069030C= GRCh38
NC_000003.11:g.164786818C= , CM000665.1:g.164786818C= GRCh37
NC_000003.10:g.166269512C= NCBI36
NG_017043.1:g.14466G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.373+48G= MANE Select ENSP00000264382.3:n.373+48G=
ENST00000264382.7:c.373+48G= ENSP00000264382.3:n.373+48G=
ENST00000476593.1:c.*248+48G= ENSP00000419450.1:n.*248+48G=
NM_001041.3:c.373+48G= NP_001032.2:n.373+48G=
XM_011513078.1:c.274+48G= XP_011511380.1:n.274+48G=
XM_011513078.2:c.274+48G= XP_011511380.1:n.274+48G=
NM_001041.4:c.373+48G= MANE Select NP_001032.2:n.373+48G=
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