Canonical Allele Identifier: CA1854052015
Community Standard Title: NM_000144.5(FXN):c.482+3A=
Gene: FXN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69065038A= , CM000671.2:g.69065038A= GRCh38
NC_000009.11:g.71679954A= , CM000671.1:g.71679954A= GRCh37
NC_000009.10:g.70869774A= NCBI36
NG_008845.2:g.34476A=

Transcript Alleles

HGVS Amino-acid Change
NM_000144.5:c.482+3A= MANE Select NP_000135.2:n.482+3A=
ENST00000484259.3:c.482+3A= MANE Select ENSP00000419243.2:n.482+3A=
NM_000144.4:c.482+3A= NP_000135.2:n.482+3A=
NM_001161706.1:c.482+3A= NP_001155178.1:n.482+3A=
NM_181425.2:c.485A= NP_852090.1:p.Tyr162=
NM_181425.3:c.485A= NP_852090.1:p.Tyr162=
ENST00000377270.7:c.482+3A= ENSP00000366482.3:n.482+3A=
ENST00000377270.8:c.257+3A= ENSP00000366482.4:n.257+3A=
ENST00000396364.7:c.482+3A= ENSP00000379650.3:n.482+3A=
ENST00000396366.6:c.485A= ENSP00000379652.2:p.Tyr162=
ENST00000484259.1:c.174+3A=
ENST00000498653.5:c.257+3A= ENSP00000418015.1:n.257+3A=
ENST00000642330.1:c.384+11778A= ENSP00000493770.1:n.384+11778A=
ENST00000642889.1:c.165+29091A= ENSP00000493780.1:n.165+29091A=
ENST00000643352.1:c.482+3A= ENSP00000496488.1:n.482+3A=
ENST00000643765.1:c.480+3A=
ENST00000644653.1:c.*85+3A= ENSP00000495217.1:n.*85+3A=
ENST00000644977.1:c.*207+3A= ENSP00000495651.1:n.*207+3A=
ENST00000645088.1:c.*85+3A= ENSP00000495447.1:n.*85+3A=
ENST00000646862.1:c.384+11778A= ENSP00000494599.1:n.384+11778A=