Canonical Allele Identifier: CA1417382039
Gene: SI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069095A= , CM000665.2:g.165069095A= GRCh38
NC_000003.11:g.164786883A= , CM000665.1:g.164786883A= GRCh37
NC_000003.10:g.166269577A= NCBI36
NG_017043.1:g.14401T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.356T= MANE Select ENSP00000264382.3:p.Met119=
ENST00000264382.7:c.356T= ENSP00000264382.3:p.Met119=
ENST00000476593.1:c.*231T= ENSP00000419450.1:n.*231T=
NM_001041.3:c.356T= NP_001032.2:p.Met119=
XM_011513078.1:c.257T= XP_011511380.1:p.Met86=
XM_011513078.2:c.257T= XP_011511380.1:p.Met86=
NM_001041.4:c.356T= MANE Select NP_001032.2:p.Met119=