Canonical Allele Identifier: CA86493589
Gene: SI HGNC NCBI

Linked Data

dbSNP Id: rs928338500
gnomAD v3: 3-164996802-A-G
gnomAD v4: 3-164996802-A-G
MyVariant Identifiers: chr3:g.164714590A>G (hg19) chr3:g.164996802A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996802A>G , CM000665.2:g.164996802A>G GRCh38
NC_000003.11:g.164714590A>G , CM000665.1:g.164714590A>G GRCh37
NC_000003.10:g.166197284A>G NCBI36
NG_017043.1:g.86694T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.4541-30T>C MANE Select ENSP00000264382.3:n.4541-30T>C
ENST00000264382.7:c.4541-30T>C ENSP00000264382.3:n.4541-30T>C
NM_001041.3:c.4541-30T>C NP_001032.2:n.4541-30T>C
XM_011513078.1:c.4442-30T>C XP_011511380.1:n.4442-30T>C
XM_011513078.2:c.4442-30T>C XP_011511380.1:n.4442-30T>C
NM_001041.4:c.4541-30T>C MANE Select NP_001032.2:n.4541-30T>C
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