Canonical Allele Identifier: CA355035342
Gene: SI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069102G>A , CM000665.2:g.165069102G>A GRCh38
NC_000003.11:g.164786890G>A , CM000665.1:g.164786890G>A GRCh37
NC_000003.10:g.166269584G>A NCBI36
NG_017043.1:g.14394C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.349C>T MANE Select ENSP00000264382.3:p.Gln117Ter
ENST00000264382.7:c.349C>T ENSP00000264382.3:p.Gln117Ter
ENST00000476593.1:c.*224C>T ENSP00000419450.1:n.*224C>T
NM_001041.3:c.349C>T NP_001032.2:p.Gln117Ter
XM_011513078.1:c.250C>T XP_011511380.1:p.Gln84Ter
XM_011513078.2:c.250C>T XP_011511380.1:p.Gln84Ter
NM_001041.4:c.349C>T MANE Select NP_001032.2:p.Gln117Ter