Canonical Allele Identifier: CA373623643

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072677A>T , CM000671.2:g.69072677A>T	GRCh38
NC_000009.11:g.71687593A>T , CM000671.1:g.71687593A>T	GRCh37
NC_000009.10:g.70877413A>T	NCBI36
NG_008845.2:g.42115A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.323A>T	ENSP00000366482.4:p.His108Leu
ENST00000484259.3:c.548A>T MANE Select	ENSP00000419243.2:p.His183Leu
ENST00000642330.1:c.384+19417A>T	ENSP00000493770.1:n.384+19417A>T
ENST00000642889.1:c.166-27224A>T	ENSP00000493780.1:n.166-27224A>T
ENST00000643352.1:c.482+7642A>T	ENSP00000496488.1:n.482+7642A>T
ENST00000643765.1:c.480+7642A>T
ENST00000644653.1:c.*151A>T	ENSP00000495217.1:n.*151A>T
ENST00000644977.1:c.*207+7642A>T	ENSP00000495651.1:n.*207+7642A>T
ENST00000645088.1:c.*85+7642A>T	ENSP00000495447.1:n.*85+7642A>T
ENST00000646862.1:c.384+19417A>T	ENSP00000494599.1:n.384+19417A>T
ENST00000377270.7:c.548A>T	ENSP00000366482.3:p.His183Leu
ENST00000396364.7:c.482+7642A>T	ENSP00000379650.3:n.482+7642A>T
ENST00000396366.6:c.556A>T	ENSP00000379652.2:p.Met186Leu
ENST00000484259.1:c.240A>T
ENST00000498653.5:c.323A>T	ENSP00000418015.1:p.His108Leu
NM_000144.4:c.548A>T	NP_000135.2:p.His183Leu
NM_001161706.1:c.482+7642A>T	NP_001155178.1:n.482+7642A>T
NM_181425.2:c.556A>T	NP_852090.1:p.Met186Leu
NM_000144.5:c.548A>T MANE Select	NP_000135.2:p.His183Leu
NM_181425.3:c.556A>T	NP_852090.1:p.Met186Leu