Canonical Allele Identifier: CA355035681
Gene: SI HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.164786939G>C (hg19) chr3:g.165069151G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069151G>C , CM000665.2:g.165069151G>C GRCh38
NC_000003.11:g.164786939G>C , CM000665.1:g.164786939G>C GRCh37
NC_000003.10:g.166269633G>C NCBI36
NG_017043.1:g.14345C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.300C>G MANE Select ENSP00000264382.3:p.Asp100Glu
ENST00000264382.7:c.300C>G ENSP00000264382.3:p.Asp100Glu
ENST00000476593.1:c.*175C>G ENSP00000419450.1:n.*175C>G
NM_001041.3:c.300C>G NP_001032.2:p.Asp100Glu
XM_011513078.1:c.201C>G XP_011511380.1:p.Asp67Glu
XM_011513078.2:c.201C>G XP_011511380.1:p.Asp67Glu
NM_001041.4:c.300C>G MANE Select NP_001032.2:p.Asp100Glu
Search 100 bp 5'
Search 100 bp 3'