Canonical Allele Identifier: CA355052181
Gene: SI HGNC NCBI

Linked Data

COSMIC: COSM6096630 COSM6096631
MyVariant Identifiers: chr3:g.164764690C>T (hg19) chr3:g.165046902C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046902C>T , CM000665.2:g.165046902C>T GRCh38
NC_000003.11:g.164764690C>T , CM000665.1:g.164764690C>T GRCh37
NC_000003.10:g.166247384C>T NCBI36
NG_017043.1:g.36594G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1826G>A MANE Select ENSP00000264382.3:p.Trp609Ter
ENST00000264382.7:c.1826G>A ENSP00000264382.3:p.Trp609Ter
NM_001041.3:c.1826G>A NP_001032.2:p.Trp609Ter
XM_011513078.1:c.1727G>A XP_011511380.1:p.Trp576Ter
XM_011513078.2:c.1727G>A XP_011511380.1:p.Trp576Ter
NM_001041.4:c.1826G>A MANE Select NP_001032.2:p.Trp609Ter
Search 100 bp 5'
Search 100 bp 3'