Canonical Allele Identifier: CA364150543

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965078C>T , CM000668.2:g.42965078C>T	GRCh38
NC_000006.11:g.42932816C>T , CM000668.1:g.42932816C>T	GRCh37
NC_000006.10:g.43040794C>T	NCBI36
NG_008370.1:g.19166G>A
NG_008396.1:g.9317C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2663G>A MANE Select	NP_000278.3:p.Arg888His
ENST00000304611.13:c.2663G>A MANE Select	ENSP00000303511.8:p.Arg888His
NM_000287.3:c.2663G>A	NP_000278.3:p.Arg888His
NM_001316313.1:c.2399G>A	NP_001303242.1:p.Arg800His
NM_001316313.2:c.2399G>A	NP_001303242.1:p.Arg800His
NR_133009.1:n.2509G>A
NR_133009.2:n.2447G>A
ENST00000244546.4:c.2416G>A	ENSP00000244546.4:n.2416G>A
ENST00000304611.12:c.2663G>A	ENSP00000303511.8:p.Arg888His
XM_011514661.1:c.2579G>A	XP_011512963.1:p.Arg860His
XM_011514661.2:c.2579G>A	XP_011512963.1:p.Arg860His
XR_001743466.2:n.3625G>A