Canonical Allele Identifier: CA5507988
Gene: TFAM HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.58390856C>T
GRCh37 chr10:g.60150616C>T
Revel Score:
ENST00000487519 (MANE Select) 0.112
gnomAD v2:
10:60150616 C / T
gnomAD v3:
10:58390856 C / T
gnomAD v4:
chr10-58390856-C-T
Joint Max Group AF 0.00000444 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV000256433
ClinVar Variation:
221285
dbSNP:
757075712
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.58390856C>T , CM000672.2:g.58390856C>T GRCh38
NC_000010.10:g.60150616C>T , CM000672.1:g.60150616C>T GRCh37
NC_000010.9:g.59820622C>T NCBI36
NG_053006.1:g.10714C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000487519.6:c.533C>T MANE Select ENSP00000420588.1:p.Pro178Leu
ENST00000373895.7:c.441+2037C>T ENSP00000363002.3:n.441+2037C>T
ENST00000373899.3:n.803C>T
ENST00000395377.2:c.477C>T
ENST00000487519.5:c.533C>T ENSP00000420588.1:p.Pro178Leu
NM_001270782.1:c.441+2037C>T NP_001257711.1:n.441+2037C>T
NM_003201.2:c.533C>T NP_003192.1:p.Pro178Leu
NR_073073.1:n.1005C>T
NM_003201.3:c.533C>T MANE Select NP_003192.1:p.Pro178Leu
NM_001270782.2:c.441+2037C>T NP_001257711.1:n.441+2037C>T
NR_073073.2:n.738C>T
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