Canonical Allele Identifier: CA436947813
Gene: SI HGNC NCBI

Linked Data

ClinVar Variation Id: 2857005
ClinVar RCV Id: RCV003696686
MyVariant Identifiers: chr3:g.164786966T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069178T>C , CM000665.2:g.165069178T>C GRCh38
NC_000003.11:g.164786966T>C , CM000665.1:g.164786966T>C GRCh37
NC_000003.10:g.166269660T>C NCBI36
NG_017043.1:g.14318A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.273A>G MANE Select ENSP00000264382.3:p.Arg91=
ENST00000264382.7:c.273A>G ENSP00000264382.3:p.Arg91=
ENST00000476593.1:c.*148A>G ENSP00000419450.1:n.*148A>G
NM_001041.3:c.273A>G NP_001032.2:p.Arg91=
XM_011513078.1:c.174A>G XP_011511380.1:p.Arg58=
XM_011513078.2:c.174A>G XP_011511380.1:p.Arg58=
NM_001041.4:c.273A>G MANE Select NP_001032.2:p.Arg91=
Search 100 bp 5'
Search 100 bp 3'