Canonical Allele Identifier: CA465233598

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69064991C>T , CM000671.2:g.69064991C>T	GRCh38
NC_000009.11:g.71679907C>T , CM000671.1:g.71679907C>T	GRCh37
NC_000009.10:g.70869727C>T	NCBI36
NG_008845.2:g.34429C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000144.5:c.438C>T MANE Select	NP_000135.2:p.Asn146=
ENST00000484259.3:c.438C>T MANE Select	ENSP00000419243.2:p.Asn146=
NM_000144.4:c.438C>T	NP_000135.2:p.Asn146=
NM_001161706.1:c.438C>T	NP_001155178.1:p.Asn146=
NM_181425.2:c.438C>T	NP_852090.1:p.Asn146=
NM_181425.3:c.438C>T	NP_852090.1:p.Asn146=
ENST00000377270.7:c.438C>T	ENSP00000366482.3:p.Asn146=
ENST00000377270.8:c.213C>T	ENSP00000366482.4:p.Asn71=
ENST00000396364.7:c.438C>T	ENSP00000379650.3:p.Asn146=
ENST00000396366.6:c.438C>T	ENSP00000379652.2:p.Asn146=
ENST00000484259.1:c.130C>T
ENST00000498653.5:c.213C>T	ENSP00000418015.1:p.Asn71=
ENST00000642330.1:c.384+11731C>T	ENSP00000493770.1:n.384+11731C>T
ENST00000642889.1:c.165+29044C>T	ENSP00000493780.1:n.165+29044C>T
ENST00000643352.1:c.438C>T	ENSP00000496488.1:p.Asn146=
ENST00000643765.1:c.436C>T
ENST00000644653.1:c.*41C>T	ENSP00000495217.1:n.*41C>T
ENST00000644977.1:c.*163C>T	ENSP00000495651.1:n.*163C>T
ENST00000645088.1:c.*41C>T	ENSP00000495447.1:n.*41C>T
ENST00000646862.1:c.384+11731C>T	ENSP00000494599.1:n.384+11731C>T