Canonical Allele Identifier: CA1854051837

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69064941G= , CM000671.2:g.69064941G=	GRCh38
NC_000009.11:g.71679857G= , CM000671.1:g.71679857G=	GRCh37
NC_000009.10:g.70869677G=	NCBI36
NG_008845.2:g.34379G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000377270.8:c.163G=	ENSP00000366482.4:p.Gly55=
ENST00000484259.3:c.388G= MANE Select	ENSP00000419243.2:p.Gly130=
ENST00000642330.1:c.384+11681G=	ENSP00000493770.1:n.384+11681G=
ENST00000642889.1:c.165+28994G=	ENSP00000493780.1:n.165+28994G=
ENST00000643352.1:c.388G=	ENSP00000496488.1:p.Gly130=
ENST00000643765.1:c.386G=
ENST00000644653.1:c.267G=	ENSP00000495217.1:p.Val89=
ENST00000644977.1:c.*113G=	ENSP00000495651.1:n.*113G=
ENST00000645088.1:c.267G=	ENSP00000495447.1:p.Val89=
ENST00000646862.1:c.384+11681G=	ENSP00000494599.1:n.384+11681G=
ENST00000377270.7:c.388G=	ENSP00000366482.3:p.Gly130=
ENST00000396364.7:c.388G=	ENSP00000379650.3:p.Gly130=
ENST00000396366.6:c.388G=	ENSP00000379652.2:p.Gly130=
ENST00000484259.1:c.80G=
ENST00000498653.5:c.163G=	ENSP00000418015.1:p.Gly55=
NM_000144.4:c.388G=	NP_000135.2:p.Gly130=
NM_001161706.1:c.388G=	NP_001155178.1:p.Gly130=
NM_181425.2:c.388G=	NP_852090.1:p.Gly130=
NM_000144.5:c.388G= MANE Select	NP_000135.2:p.Gly130=
NM_181425.3:c.388G=	NP_852090.1:p.Gly130=