Canonical Allele Identifier: CA5507922
Community Standard Title: NM_003201.3(TFAM):c.291+9A>G
Gene: TFAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.58388269A>G , CM000672.2:g.58388269A>G GRCh38
NC_000010.10:g.60148029A>G , CM000672.1:g.60148029A>G GRCh37
NC_000010.9:g.59818035A>G NCBI36
NG_053006.1:g.8127A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003201.3:c.291+9A>G MANE Select NP_003192.1:n.291+9A>G
ENST00000487519.6:c.291+9A>G MANE Select ENSP00000420588.1:n.291+9A>G
NM_001270782.1:c.291+9A>G NP_001257711.1:n.291+9A>G
NM_001270782.2:c.291+9A>G NP_001257711.1:n.291+9A>G
NM_003201.2:c.291+9A>G NP_003192.1:n.291+9A>G
NR_073073.1:n.763+9A>G
NR_073073.2:n.496+9A>G
ENST00000373895.7:c.291+9A>G ENSP00000363002.3:n.291+9A>G
ENST00000373899.3:n.561+9A>G
ENST00000395377.2:c.235+9A>G
ENST00000487519.5:c.291+9A>G ENSP00000420588.1:n.291+9A>G
XM_011540120.1:c.291+9A>G XP_011538422.1:n.291+9A>G
XM_011540121.1:c.291+9A>G XP_011538423.1:n.291+9A>G
XM_011540121.3:c.291+9A>G XP_011538423.1:n.291+9A>G