Canonical Allele Identifier: CA86497665
Gene: SI HGNC NCBI

Linked Data

dbSNP Id: rs180689258
gnomAD v2: 3-164786814-C-T
gnomAD v3: 3-165069026-C-T
gnomAD v4: 3-165069026-C-T
MyVariant Identifiers: chr3:g.164786814C>T (hg19) chr3:g.165069026C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069026C>T , CM000665.2:g.165069026C>T GRCh38
NC_000003.11:g.164786814C>T , CM000665.1:g.164786814C>T GRCh37
NC_000003.10:g.166269508C>T NCBI36
NG_017043.1:g.14470G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.373+52G>A MANE Select ENSP00000264382.3:n.373+52G>A
ENST00000264382.7:c.373+52G>A ENSP00000264382.3:n.373+52G>A
ENST00000476593.1:c.*248+52G>A ENSP00000419450.1:n.*248+52G>A
NM_001041.3:c.373+52G>A NP_001032.2:n.373+52G>A
XM_011513078.1:c.274+52G>A XP_011511380.1:n.274+52G>A
XM_011513078.2:c.274+52G>A XP_011511380.1:n.274+52G>A
NM_001041.4:c.373+52G>A MANE Select NP_001032.2:n.373+52G>A
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