Canonical Allele Identifier: CA138230735

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42974002C>T , CM000668.2:g.42974002C>T	GRCh38
NC_000006.11:g.42941740C>T , CM000668.1:g.42941740C>T	GRCh37
NC_000006.10:g.43049718C>T	NCBI36
NG_008370.1:g.10242G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.1130+1G>A MANE Select	NP_000278.3:n.1130+1G>A
ENST00000304611.13:c.1130+1G>A MANE Select	ENSP00000303511.8:n.1130+1G>A
NM_000287.3:c.1130+1G>A	NP_000278.3:n.1130+1G>A
NM_001316313.1:c.866+1G>A	NP_001303242.1:n.866+1G>A
NM_001316313.2:c.866+1G>A	NP_001303242.1:n.866+1G>A
NR_133009.1:n.1223+1G>A
NR_133009.2:n.1161+1G>A
ENST00000244546.4:c.1130+1G>A	ENSP00000244546.4:n.1130+1G>A
ENST00000304611.12:c.1130+1G>A	ENSP00000303511.8:n.1130+1G>A
XM_011514661.1:c.1046+873G>A	XP_011512963.1:n.1046+873G>A
XM_011514661.2:c.1046+873G>A	XP_011512963.1:n.1046+873G>A
XR_001743466.2:n.2204+1G>A
XR_926246.1:n.1223+1G>A