Canonical Allele Identifier: CA86544204
Gene: SI HGNC NCBI

Linked Data

dbSNP Id: rs111622296
gnomAD v3: 3-165046786-T-C
gnomAD v4: 3-165046786-T-C
MyVariant Identifiers: chr3:g.164764574T>C (hg19) chr3:g.165046786T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046786T>C , CM000665.2:g.165046786T>C GRCh38
NC_000003.11:g.164764574T>C , CM000665.1:g.164764574T>C GRCh37
NC_000003.10:g.166247268T>C NCBI36
NG_017043.1:g.36710A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264382.8:c.1887+55A>G MANE Select ENSP00000264382.3:n.1887+55A>G
ENST00000264382.7:c.1887+55A>G ENSP00000264382.3:n.1887+55A>G
NM_001041.3:c.1887+55A>G NP_001032.2:n.1887+55A>G
XM_011513078.1:c.1788+55A>G XP_011511380.1:n.1788+55A>G
XM_011513078.2:c.1788+55A>G XP_011511380.1:n.1788+55A>G
NM_001041.4:c.1887+55A>G MANE Select NP_001032.2:n.1887+55A>G
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