Canonical Allele Identifier: CA138237512

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978296G>T , CM000668.2:g.42978296G>T	GRCh38
NC_000006.11:g.42946034G>T , CM000668.1:g.42946034G>T	GRCh37
NC_000006.10:g.43054012G>T	NCBI36
NG_008370.1:g.5948C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.855C>A MANE Select	NP_000278.3:p.Pro285=
ENST00000304611.13:c.855C>A MANE Select	ENSP00000303511.8:p.Pro285=
NM_000287.3:c.855C>A	NP_000278.3:p.Pro285=
NM_001316313.1:c.618+237C>A	NP_001303242.1:n.618+237C>A
NM_001316313.2:c.618+237C>A	NP_001303242.1:n.618+237C>A
NR_133009.1:n.948C>A
NR_133009.2:n.886C>A
ENST00000244546.4:c.855C>A	ENSP00000244546.4:p.Pro285=
ENST00000304611.12:c.855C>A	ENSP00000303511.8:p.Pro285=
XM_011514661.1:c.855C>A	XP_011512963.1:p.Pro285=
XM_011514661.2:c.855C>A	XP_011512963.1:p.Pro285=
XR_001743466.2:n.1929C>A
XR_926246.1:n.948C>A