Canonical Allele Identifier: CA13156049
Community Standard Title: NM_003201.3(TFAM):c.101+189G>C
Gene: TFAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.58385837G>C , CM000672.2:g.58385837G>C GRCh38
NC_000010.10:g.60145597G>C , CM000672.1:g.60145597G>C GRCh37
NC_000010.9:g.59815603G>C NCBI36
NG_053006.1:g.5695G>C

Transcript Alleles

HGVS Amino-acid Change
NM_003201.3:c.101+189G>C MANE Select NP_003192.1:n.101+189G>C
ENST00000487519.6:c.101+189G>C MANE Select ENSP00000420588.1:n.101+189G>C
NM_001270782.1:c.101+189G>C NP_001257711.1:n.101+189G>C
NM_001270782.2:c.101+189G>C NP_001257711.1:n.101+189G>C
NM_003201.2:c.101+189G>C NP_003192.1:n.101+189G>C
NR_073073.1:n.506+189G>C
NR_073073.2:n.239+189G>C
ENST00000373895.7:c.101+189G>C ENSP00000363002.3:n.101+189G>C
ENST00000373899.3:n.304+189G>C
ENST00000395377.2:c.45+189G>C
ENST00000487519.5:c.101+189G>C ENSP00000420588.1:n.101+189G>C
XM_011540120.1:c.101+189G>C XP_011538422.1:n.101+189G>C
XM_011540121.1:c.101+189G>C XP_011538423.1:n.101+189G>C
XM_011540121.3:c.101+189G>C XP_011538423.1:n.101+189G>C