Canonical Allele Identifier: CA7985535
Gene: TUFM HGNC NCBI
COSMIC:
COSN165169 (not active)
MyVariant.info:
GRCh38 chr16:g.28844406A>G
GRCh37 chr16:g.28855727A>G
gnomAD v2:
16:28855727 A / G
gnomAD v3:
16:28844406 A / G
gnomAD v4:
chr16-28844406-A-G
Joint Max Group AF 0.46341847 (AMR)
Genomes Max Group AF 0.39817396 (AMR)
Exomes Max Group AF 0.48355059 (AMR)
ClinVar RCV:
RCV000265919
RCV001522443
ClinVar Variation:
318747
dbSNP:
4788099
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844406A>G , CM000678.2:g.28844406A>G GRCh38
NC_000016.9:g.28855727A>G , CM000678.1:g.28855727A>G GRCh37
NC_000016.8:g.28763228A>G NCBI36
NG_008964.1:g.7003T>C
NG_029706.2:g.2807A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.817+13T>C MANE Select ENSP00000322439.3:n.817+13T>C
ENST00000313511.7:c.817+13T>C ENSP00000322439.3:n.817+13T>C
ENST00000565012.1:c.*344+13T>C ENSP00000455007.1:n.*344+13T>C
NM_003321.4:c.817+13T>C NP_003312.3:n.817+13T>C
XM_011545928.1:c.817+13T>C XP_011544230.1:n.817+13T>C
NM_001365360.1:c.817+13T>C NP_001352289.1:n.817+13T>C
NM_003321.5:c.817+13T>C MANE Select NP_003312.3:n.817+13T>C
NM_001365360.2:c.817+13T>C NP_001352289.1:n.817+13T>C
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