Canonical Allele Identifier: CA355035796
Gene: SI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069181C>A , CM000665.2:g.165069181C>A GRCh38
NC_000003.11:g.164786969C>A , CM000665.1:g.164786969C>A GRCh37
NC_000003.10:g.166269663C>A NCBI36
NG_017043.1:g.14315G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.270G>T MANE Select ENSP00000264382.3:p.Gln90His
ENST00000264382.7:c.270G>T ENSP00000264382.3:p.Gln90His
ENST00000476593.1:c.*145G>T ENSP00000419450.1:n.*145G>T
NM_001041.3:c.270G>T NP_001032.2:p.Gln90His
XM_011513078.1:c.171G>T XP_011511380.1:p.Gln57His
XM_011513078.2:c.171G>T XP_011511380.1:p.Gln57His
NM_001041.4:c.270G>T MANE Select NP_001032.2:p.Gln90His