Canonical Allele Identifier: CA5507853
Gene: TFAM HGNC NCBI
COSMIC:
COSM4985967 (not active)
MyVariant.info:
GRCh38 chr10:g.58385582G>C
GRCh37 chr10:g.60145342G>C
Revel Score:
ENST00000487519 (MANE Select) 0.025
ENST00000373895 0.025
gnomAD v2:
10:60145342 G / C
gnomAD v3:
10:58385582 G / C
gnomAD v4:
chr10-58385582-G-C
Joint Max Group AF 0.17455806 (EAS)
Genomes Max Group AF 0.15797617 (EAS)
Exomes Max Group AF 0.17579926 (EAS)
ClinVar RCV:
RCV000830168
RCV003965618
ClinVar Variation:
670994
dbSNP:
1937
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.58385582G>C , CM000672.2:g.58385582G>C GRCh38
NC_000010.10:g.60145342G>C , CM000672.1:g.60145342G>C GRCh37
NC_000010.9:g.59815348G>C NCBI36
NG_053006.1:g.5440G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000487519.6:c.35G>C MANE Select ENSP00000420588.1:p.Ser12Thr
ENST00000373895.7:c.35G>C ENSP00000363002.3:p.Ser12Thr
ENST00000373899.3:n.238G>C
ENST00000487519.5:c.35G>C ENSP00000420588.1:p.Ser12Thr
NM_001270782.1:c.35G>C NP_001257711.1:p.Ser12Thr
NM_003201.2:c.35G>C NP_003192.1:p.Ser12Thr
NR_073073.1:n.440G>C
XM_011540120.1:c.35G>C XP_011538422.1:p.Ser12Thr
XM_011540121.1:c.35G>C XP_011538423.1:p.Ser12Thr
XM_011540121.3:c.35G>C XP_011538423.1:p.Ser12Thr
NM_003201.3:c.35G>C MANE Select NP_003192.1:p.Ser12Thr
NM_001270782.2:c.35G>C NP_001257711.1:p.Ser12Thr
NR_073073.2:n.173G>C
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