Canonical Allele Identifier: CA259594012
Community Standard Title: NM_001308120.2(TOGARAM1):c.2338+3A>G
Gene: TOGARAM1 HGNC NCBI
KLHL28 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.44999500A>G , CM000676.2:g.44999500A>G GRCh38
NC_000014.8:g.45468703A>G , CM000676.1:g.45468703A>G GRCh37
NC_000014.7:g.44538453A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001308120.2:c.2338+3A>G (TOGARAM1) MANE Select NP_001295049.1:n.2338+3A>G
ENST00000361462.7:c.2338+3A>G (TOGARAM1) MANE Select ENSP00000354917.2:n.2338+3A>G
NM_001308120.1:c.2338+3A>G (TOGARAM1) NP_001295049.1:n.2338+3A>G
NM_015091.2:c.2338+3A>G (TOGARAM1) NP_055906.2:n.2338+3A>G
NM_015091.3:c.2338+3A>G (TOGARAM1) NP_055906.2:n.2338+3A>G
NM_015091.4:c.2338+3A>G (TOGARAM1) NP_055906.2:n.2338+3A>G
NR_131765.1:n.2570+3A>G (TOGARAM1)
NR_131765.2:n.2570+3A>G (TOGARAM1)
ENST00000361462.6:c.2338+3A>G (TOGARAM1) ENSP00000354917.2:n.2338+3A>G
ENST00000361577.7:c.2338+3A>G (TOGARAM1) ENSP00000355045.3:n.2338+3A>G
ENST00000553817.1:n.208-21202T>C (KLHL28)
ENST00000555607.1:n.2546+3A>G (TOGARAM1)
ENST00000555874.5:c.295+3A>G (TOGARAM1) ENSP00000451141.1:n.295+3A>G
ENST00000556239.5:c.-101-21202T>C (KLHL28) ENSP00000452591.1:n.-101-21202T>C
ENST00000557250.1:c.219+3A>G (TOGARAM1)
ENST00000557423.5:c.2338+3A>G (TOGARAM1) ENSP00000451829.1:n.2338+3A>G
XM_006720083.1:c.2338+3A>G (TOGARAM1) XP_006720146.1:n.2338+3A>G
XM_011536571.1:c.2338+3A>G (TOGARAM1) XP_011534873.1:n.2338+3A>G
XM_011536572.1:c.2338+3A>G (TOGARAM1) XP_011534874.1:n.2338+3A>G
XM_011536573.1:c.2338+3A>G (TOGARAM1) XP_011534875.1:n.2338+3A>G
XM_017021098.1:c.2338+3A>G (TOGARAM1) XP_016876587.1:n.2338+3A>G
XM_017021099.1:c.2338+3A>G (TOGARAM1) XP_016876588.1:n.2338+3A>G
XM_017021100.1:c.2338+3A>G (TOGARAM1) XP_016876589.1:n.2338+3A>G
XR_001750194.1:n.2541+3A>G (TOGARAM1)
XR_001750195.1:n.2541+3A>G (TOGARAM1)
XR_245674.1:n.2541+3A>G (TOGARAM1)
XR_943403.1:n.2541+3A>G (TOGARAM1)
XR_943403.2:n.2541+3A>G (TOGARAM1)
XR_943404.1:n.2541+3A>G (TOGARAM1)