Canonical Allele Identifier: CA355030001
Gene: SI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996754A>C , CM000665.2:g.164996754A>C GRCh38
NC_000003.11:g.164714542A>C , CM000665.1:g.164714542A>C GRCh37
NC_000003.10:g.166197236A>C NCBI36
NG_017043.1:g.86742T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.4559T>G MANE Select ENSP00000264382.3:p.Leu1520Arg
ENST00000264382.7:c.4559T>G ENSP00000264382.3:p.Leu1520Arg
NM_001041.3:c.4559T>G NP_001032.2:p.Leu1520Arg
XM_011513078.1:c.4460T>G XP_011511380.1:p.Leu1487Arg
XM_011513078.2:c.4460T>G XP_011511380.1:p.Leu1487Arg
NM_001041.4:c.4559T>G MANE Select NP_001032.2:p.Leu1520Arg