Canonical Allele Identifier: CA1854051978

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69065025T= , CM000671.2:g.69065025T=	GRCh38
NC_000009.11:g.71679941T= , CM000671.1:g.71679941T=	GRCh37
NC_000009.10:g.70869761T=	NCBI36
NG_008845.2:g.34463T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.247T=	ENSP00000366482.4:p.Ser83=
ENST00000484259.3:c.472T= MANE Select	ENSP00000419243.2:p.Ser158=
ENST00000642330.1:c.384+11765T=	ENSP00000493770.1:n.384+11765T=
ENST00000642889.1:c.165+29078T=	ENSP00000493780.1:n.165+29078T=
ENST00000643352.1:c.472T=	ENSP00000496488.1:p.Ser158=
ENST00000643765.1:c.470T=
ENST00000644653.1:c.*75T=	ENSP00000495217.1:n.*75T=
ENST00000644977.1:c.*197T=	ENSP00000495651.1:n.*197T=
ENST00000645088.1:c.*75T=	ENSP00000495447.1:n.*75T=
ENST00000646862.1:c.384+11765T=	ENSP00000494599.1:n.384+11765T=
ENST00000377270.7:c.472T=	ENSP00000366482.3:p.Ser158=
ENST00000396364.7:c.472T=	ENSP00000379650.3:p.Ser158=
ENST00000396366.6:c.472T=	ENSP00000379652.2:p.Ser158=
ENST00000484259.1:c.164T=
ENST00000498653.5:c.247T=	ENSP00000418015.1:p.Ser83=
NM_000144.4:c.472T=	NP_000135.2:p.Ser158=
NM_001161706.1:c.472T=	NP_001155178.1:p.Ser158=
NM_181425.2:c.472T=	NP_852090.1:p.Ser158=
NM_000144.5:c.472T= MANE Select	NP_000135.2:p.Ser158=
NM_181425.3:c.472T=	NP_852090.1:p.Ser158=