Canonical Allele Identifier: CA389572702
Community Standard Title: NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)
Gene: TOGARAM1 HGNC NCBI
KLHL28 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45025792C>A , CM000676.2:g.45025792C>A GRCh38
NC_000014.8:g.45494995C>A , CM000676.1:g.45494995C>A GRCh37
NC_000014.7:g.44564745C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001308120.2:c.3248C>A (TOGARAM1) MANE Select NP_001295049.1:p.Ser1083Ter
ENST00000361462.7:c.3248C>A (TOGARAM1) MANE Select ENSP00000354917.2:p.Ser1083Ter
NM_001308120.1:c.3248C>A (TOGARAM1) NP_001295049.1:p.Ser1083Ter
NM_015091.2:c.3248C>A (TOGARAM1) NP_055906.2:p.Ser1083Ter
NM_015091.3:c.3248C>A (TOGARAM1) NP_055906.2:p.Ser1083Ter
NM_015091.4:c.3248C>A (TOGARAM1) NP_055906.2:p.Ser1083Ter
NR_131765.1:n.3311C>A (TOGARAM1)
NR_131765.2:n.3311C>A (TOGARAM1)
ENST00000361462.6:c.3248C>A (TOGARAM1) ENSP00000354917.2:p.Ser1083Ter
ENST00000361577.7:c.3248C>A (TOGARAM1) ENSP00000355045.3:p.Ser1083Ter
ENST00000553817.1:n.207+16324G>T (KLHL28)
ENST00000555586.1:n.320C>A (TOGARAM1)
ENST00000556105.1:n.199C>A (TOGARAM1)
ENST00000556239.5:c.-102+16324G>T (KLHL28) ENSP00000452591.1:n.-102+16324G>T
ENST00000557423.5:c.*91C>A (TOGARAM1) ENSP00000451829.1:n.*91C>A
XM_006720083.1:c.3248C>A (TOGARAM1) XP_006720146.1:p.Ser1083Ter
XM_011536571.1:c.3248C>A (TOGARAM1) XP_011534873.1:p.Ser1083Ter
XM_011536572.1:c.3248C>A (TOGARAM1) XP_011534874.1:p.Ser1083Ter
XM_011536573.1:c.3248C>A (TOGARAM1) XP_011534875.1:p.Ser1083Ter
XM_017021098.1:c.3239-1507C>A (TOGARAM1) XP_016876587.1:n.3239-1507C>A
XM_017021099.1:c.2942C>A (TOGARAM1) XP_016876588.1:p.Ser981Ter
XM_017021100.1:c.*18-1507C>A (TOGARAM1) XP_016876589.1:n.*18-1507C>A
XR_001750194.1:n.3451C>A (TOGARAM1)
XR_001750195.1:n.3218C>A (TOGARAM1)
XR_245674.1:n.3218C>A (TOGARAM1)
XR_943403.1:n.3515C>A (TOGARAM1)
XR_943403.2:n.3515C>A (TOGARAM1)
XR_943404.1:n.3515C>A (TOGARAM1)