Canonical Allele Identifier: CA436706654
Gene: SI HGNC NCBI

Linked Data

dbSNP Id: rs1227841273
gnomAD v2: 3-164764668-T-G
gnomAD v4: 3-165046880-T-G
MyVariant Identifiers: chr3:g.164764668T>G (hg19) chr3:g.165046880T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046880T>G , CM000665.2:g.165046880T>G GRCh38
NC_000003.11:g.164764668T>G , CM000665.1:g.164764668T>G GRCh37
NC_000003.10:g.166247362T>G NCBI36
NG_017043.1:g.36616A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264382.8:c.1848A>C MANE Select ENSP00000264382.3:p.Ile616=
ENST00000264382.7:c.1848A>C ENSP00000264382.3:p.Ile616=
NM_001041.3:c.1848A>C NP_001032.2:p.Ile616=
XM_011513078.1:c.1749A>C XP_011511380.1:p.Ile583=
XM_011513078.2:c.1749A>C XP_011511380.1:p.Ile583=
NM_001041.4:c.1848A>C MANE Select NP_001032.2:p.Ile616=
Search 100 bp 5'
Search 100 bp 3'