Canonical Allele Identifier: CA902014366
Gene: SI HGNC NCBI

Linked Data

dbSNP Id: rs1192042700
gnomAD v3: 3-165046784-A-T
gnomAD v4: 3-165046784-A-T
MyVariant Identifiers: chr3:g.164764572A>T (hg19) chr3:g.165046784A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046784A>T , CM000665.2:g.165046784A>T GRCh38
NC_000003.11:g.164764572A>T , CM000665.1:g.164764572A>T GRCh37
NC_000003.10:g.166247266A>T NCBI36
NG_017043.1:g.36712T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1887+57T>A MANE Select ENSP00000264382.3:n.1887+57T>A
ENST00000264382.7:c.1887+57T>A ENSP00000264382.3:n.1887+57T>A
NM_001041.3:c.1887+57T>A NP_001032.2:n.1887+57T>A
XM_011513078.1:c.1788+57T>A XP_011511380.1:n.1788+57T>A
XM_011513078.2:c.1788+57T>A XP_011511380.1:n.1788+57T>A
NM_001041.4:c.1887+57T>A MANE Select NP_001032.2:n.1887+57T>A
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