Canonical Allele Identifier: CA355052172
Gene: SI HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.164764687T>A (hg19) chr3:g.165046899T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046899T>A , CM000665.2:g.165046899T>A GRCh38
NC_000003.11:g.164764687T>A , CM000665.1:g.164764687T>A GRCh37
NC_000003.10:g.166247381T>A NCBI36
NG_017043.1:g.36597A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1829A>T MANE Select ENSP00000264382.3:p.Glu610Val
ENST00000264382.7:c.1829A>T ENSP00000264382.3:p.Glu610Val
NM_001041.3:c.1829A>T NP_001032.2:p.Glu610Val
XM_011513078.1:c.1730A>T XP_011511380.1:p.Glu577Val
XM_011513078.2:c.1730A>T XP_011511380.1:p.Glu577Val
NM_001041.4:c.1829A>T MANE Select NP_001032.2:p.Glu610Val
Search 100 bp 5'
Search 100 bp 3'