Canonical Allele Identifier: CA86497646
Gene: SI HGNC NCBI

Linked Data

dbSNP Id: rs776700366
gnomAD v4: 3-165069022-T-C
MyVariant Identifiers: chr3:g.164786810T>C (hg19) chr3:g.165069022T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069022T>C , CM000665.2:g.165069022T>C GRCh38
NC_000003.11:g.164786810T>C , CM000665.1:g.164786810T>C GRCh37
NC_000003.10:g.166269504T>C NCBI36
NG_017043.1:g.14474A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.373+56A>G MANE Select ENSP00000264382.3:n.373+56A>G
ENST00000264382.7:c.373+56A>G ENSP00000264382.3:n.373+56A>G
ENST00000476593.1:c.*248+56A>G ENSP00000419450.1:n.*248+56A>G
NM_001041.3:c.373+56A>G NP_001032.2:n.373+56A>G
XM_011513078.1:c.274+56A>G XP_011511380.1:n.274+56A>G
XM_011513078.2:c.274+56A>G XP_011511380.1:n.274+56A>G
NM_001041.4:c.373+56A>G MANE Select NP_001032.2:n.373+56A>G
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