Canonical Allele Identifier: CA373623488

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072620A>C , CM000671.2:g.69072620A>C	GRCh38
NC_000009.11:g.71687536A>C , CM000671.1:g.71687536A>C	GRCh37
NC_000009.10:g.70877356A>C	NCBI36
NG_008845.2:g.42058A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000144.5:c.491A>C MANE Select	NP_000135.2:p.Lys164Thr
ENST00000484259.3:c.491A>C MANE Select	ENSP00000419243.2:p.Lys164Thr
NM_000144.4:c.491A>C	NP_000135.2:p.Lys164Thr
NM_001161706.1:c.482+7585A>C	NP_001155178.1:n.482+7585A>C
NM_181425.2:c.499A>C	NP_852090.1:p.Ser167Arg
NM_181425.3:c.499A>C	NP_852090.1:p.Ser167Arg
ENST00000377270.7:c.491A>C	ENSP00000366482.3:p.Lys164Thr
ENST00000377270.8:c.266A>C	ENSP00000366482.4:p.Lys89Thr
ENST00000396364.7:c.482+7585A>C	ENSP00000379650.3:n.482+7585A>C
ENST00000396366.6:c.499A>C	ENSP00000379652.2:p.Ser167Arg
ENST00000484259.1:c.183A>C
ENST00000498653.5:c.266A>C	ENSP00000418015.1:p.Lys89Thr
ENST00000642330.1:c.384+19360A>C	ENSP00000493770.1:n.384+19360A>C
ENST00000642889.1:c.166-27281A>C	ENSP00000493780.1:n.166-27281A>C
ENST00000643352.1:c.482+7585A>C	ENSP00000496488.1:n.482+7585A>C
ENST00000643765.1:c.480+7585A>C
ENST00000644653.1:c.*94A>C	ENSP00000495217.1:n.*94A>C
ENST00000644977.1:c.*207+7585A>C	ENSP00000495651.1:n.*207+7585A>C
ENST00000645088.1:c.*85+7585A>C	ENSP00000495447.1:n.*85+7585A>C
ENST00000646862.1:c.384+19360A>C	ENSP00000494599.1:n.384+19360A>C