Canonical Allele Identifier: CA3811061

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42966049C>T , CM000668.2:g.42966049C>T	GRCh38
NC_000006.11:g.42933787C>T , CM000668.1:g.42933787C>T	GRCh37
NC_000006.10:g.43041765C>T	NCBI36
NG_008370.1:g.18195G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2357G>A MANE Select	ENSP00000303511.8:p.Arg786Gln
ENST00000244546.4:c.2116-260G>A	ENSP00000244546.4:n.2116-260G>A
ENST00000304611.12:c.2357G>A	ENSP00000303511.8:p.Arg786Gln
NM_000287.3:c.2357G>A	NP_000278.3:p.Arg786Gln
NM_001316313.1:c.2093G>A	NP_001303242.1:p.Arg698Gln
NR_133009.1:n.2209-260G>A
XM_011514661.1:c.2273G>A	XP_011512963.1:p.Arg758Gln
XM_011514661.2:c.2273G>A	XP_011512963.1:p.Arg758Gln
XR_001743466.2:n.3319G>A
NM_000287.4:c.2357G>A MANE Select	NP_000278.3:p.Arg786Gln
NM_001316313.2:c.2093G>A	NP_001303242.1:p.Arg698Gln
NR_133009.2:n.2147-260G>A