Canonical Allele Identifier: CA7484883

Gene: DNAJC17 GCHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40767332T>C , CM000677.2:g.40767332T>C	GRCh38
NC_000015.9:g.41059530T>C , CM000677.1:g.41059530T>C	GRCh37
NC_000015.8:g.38846822T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005258.3:c.238T>C (GCHFR) MANE Select	NP_005249.1:p.Cys80Arg
NM_018163.3:c.*608A>G (DNAJC17) MANE Select	NP_060633.1:n.*608A>G
ENST00000220496.9:c.*608A>G (DNAJC17) MANE Select	ENSP00000220496.4:n.*608A>G
ENST00000260447.6:c.238T>C (GCHFR) MANE Select	ENSP00000260447.4:p.Cys80Arg
NM_005258.2:c.238T>C (GCHFR)	NP_005249.1:p.Cys80Arg
ENST00000220496.8:c.*608A>G (DNAJC17)	ENSP00000220496.4:n.*608A>G
ENST00000260447.5:c.238T>C (GCHFR)	ENSP00000260447.4:p.Cys80Arg
ENST00000558467.1:c.187T>C (GCHFR)	ENSP00000453640.1:p.Cys63Arg
ENST00000558670.1:c.*101T>C (GCHFR)	ENSP00000477896.1:n.*101T>C
ENST00000559445.1:c.205T>C (GCHFR)	ENSP00000453871.1:p.Cys69Arg
ENST00000559932.1:c.187T>C (GCHFR)	ENSP00000454195.1:p.Cys63Arg