Canonical Allele Identifier: CA377057729
Community Standard Title: NM_003201.3(TFAM):c.35G>A (p.Ser12Asn)
Gene: TFAM HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_003201.3:c.35G>A MANE Select NP_003192.1:p.Ser12Asn
ENST00000487519.6:c.35G>A MANE Select ENSP00000420588.1:p.Ser12Asn
NM_001270782.1:c.35G>A NP_001257711.1:p.Ser12Asn
NM_001270782.2:c.35G>A NP_001257711.1:p.Ser12Asn
NM_003201.2:c.35G>A NP_003192.1:p.Ser12Asn
NR_073073.1:n.440G>A
NR_073073.2:n.173G>A
ENST00000373895.7:c.35G>A ENSP00000363002.3:p.Ser12Asn
ENST00000373899.3:n.238G>A
ENST00000487519.5:c.35G>A ENSP00000420588.1:p.Ser12Asn
XM_011540120.1:c.35G>A XP_011538422.1:p.Ser12Asn
XM_011540121.1:c.35G>A XP_011538423.1:p.Ser12Asn
XM_011540121.3:c.35G>A XP_011538423.1:p.Ser12Asn