Canonical Allele Identifier: CA15825503
Gene: TOGARAM1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.45073835T>C
GRCh37 chr14:g.45543038T>C
gnomAD v2:
14:45543038 T / C
gnomAD v3:
14:45073835 T / C
gnomAD v4:
chr14-45073835-T-C
Joint Max Group AF 0.22503718 (AFR)
Genomes Max Group AF 0.22561509 (AFR)
Exomes Max Group AF 0.21035238 (AFR)
dbSNP:
1053667
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45073835T>C , CM000676.2:g.45073835T>C GRCh38
NC_000014.8:g.45543038T>C , CM000676.1:g.45543038T>C GRCh37
NC_000014.7:g.44612788T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361462.7:c.*274T>C MANE Select ENSP00000354917.2:n.*274T>C
ENST00000361462.6:c.*274T>C ENSP00000354917.2:n.*274T>C
ENST00000361577.7:c.*274T>C ENSP00000355045.3:n.*274T>C
ENST00000557423.5:c.*2439T>C ENSP00000451829.1:n.*2439T>C
NM_001308120.1:c.*274T>C NP_001295049.1:n.*274T>C
NM_015091.2:c.*274T>C NP_055906.2:n.*274T>C
NM_015091.3:c.*274T>C NP_055906.2:n.*274T>C
NR_131765.1:n.5659T>C
XM_011536571.1:c.*579T>C XP_011534873.1:n.*579T>C
XM_017021098.1:c.*274T>C XP_016876587.1:n.*274T>C
XM_017021099.1:c.*274T>C XP_016876588.1:n.*274T>C
XR_001750194.1:n.5923T>C
XR_001750195.1:n.5566T>C
NM_001308120.2:c.*274T>C MANE Select NP_001295049.1:n.*274T>C
NM_015091.4:c.*274T>C NP_055906.2:n.*274T>C
NR_131765.2:n.5659T>C
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