Canonical Allele Identifier: CA1417304029
Gene: SI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996818A= , CM000665.2:g.164996818A= GRCh38
NC_000003.11:g.164714606A= , CM000665.1:g.164714606A= GRCh37
NC_000003.10:g.166197300A= NCBI36
NG_017043.1:g.86678T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.4541-46T= MANE Select ENSP00000264382.3:n.4541-46T=
ENST00000264382.7:c.4541-46T= ENSP00000264382.3:n.4541-46T=
NM_001041.3:c.4541-46T= NP_001032.2:n.4541-46T=
XM_011513078.1:c.4442-46T= XP_011511380.1:n.4442-46T=
XM_011513078.2:c.4442-46T= XP_011511380.1:n.4442-46T=
NM_001041.4:c.4541-46T= MANE Select NP_001032.2:n.4541-46T=