Canonical Allele Identifier: CA355052176
Gene: SI HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.164764688C>G (hg19) chr3:g.165046900C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046900C>G , CM000665.2:g.165046900C>G GRCh38
NC_000003.11:g.164764688C>G , CM000665.1:g.164764688C>G GRCh37
NC_000003.10:g.166247382C>G NCBI36
NG_017043.1:g.36596G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1828G>C MANE Select ENSP00000264382.3:p.Glu610Gln
ENST00000264382.7:c.1828G>C ENSP00000264382.3:p.Glu610Gln
NM_001041.3:c.1828G>C NP_001032.2:p.Glu610Gln
XM_011513078.1:c.1729G>C XP_011511380.1:p.Glu577Gln
XM_011513078.2:c.1729G>C XP_011511380.1:p.Glu577Gln
NM_001041.4:c.1828G>C MANE Select NP_001032.2:p.Glu610Gln
Search 100 bp 5'
Search 100 bp 3'