Canonical Allele Identifier: CA208040669
Community Standard Title: NM_003201.3(TFAM):c.538-288A>C
Gene: TFAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.58394070A>C , CM000672.2:g.58394070A>C GRCh38
NC_000010.10:g.60153830A>C , CM000672.1:g.60153830A>C GRCh37
NC_000010.9:g.59823836A>C NCBI36
NG_053006.1:g.13928A>C

Transcript Alleles

HGVS Amino-acid Change
NM_003201.3:c.538-288A>C MANE Select NP_003192.1:n.538-288A>C
ENST00000487519.6:c.538-288A>C MANE Select ENSP00000420588.1:n.538-288A>C
NM_001270782.1:c.442-288A>C NP_001257711.1:n.442-288A>C
NM_001270782.2:c.442-288A>C NP_001257711.1:n.442-288A>C
NM_003201.2:c.538-288A>C NP_003192.1:n.538-288A>C
NR_073073.1:n.1010-288A>C
NR_073073.2:n.743-288A>C
ENST00000373895.7:c.442-288A>C ENSP00000363002.3:n.442-288A>C
ENST00000373899.3:n.808-288A>C
ENST00000395377.2:c.482-288A>C
ENST00000487519.5:c.538-288A>C ENSP00000420588.1:n.538-288A>C