Canonical Allele Identifier: CA3810880

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42964409G>A , CM000668.2:g.42964409G>A	GRCh38
NC_000006.11:g.42932147G>A , CM000668.1:g.42932147G>A	GRCh37
NC_000006.10:g.43040125G>A	NCBI36
NG_008370.1:g.19835C>T
NG_008396.1:g.8648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2869C>T MANE Select	ENSP00000303511.8:p.Arg957Trp
ENST00000244546.4:c.2622C>T	ENSP00000244546.4:n.2622C>T
ENST00000304611.12:c.2869C>T	ENSP00000303511.8:p.Arg957Trp
NM_000287.3:c.2869C>T	NP_000278.3:p.Arg957Trp
NM_001316313.1:c.2605C>T	NP_001303242.1:p.Arg869Trp
NR_133009.1:n.2715C>T
XM_011514661.1:c.2785C>T	XP_011512963.1:p.Arg929Trp
XM_011514661.2:c.2785C>T	XP_011512963.1:p.Arg929Trp
XR_001743466.2:n.3831C>T
NM_000287.4:c.2869C>T MANE Select	NP_000278.3:p.Arg957Trp
NM_001316313.2:c.2605C>T	NP_001303242.1:p.Arg869Trp
NR_133009.2:n.2653C>T