Canonical Allele Identifier: CA3811135

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42966539C>T , CM000668.2:g.42966539C>T	GRCh38
NC_000006.11:g.42934277C>T , CM000668.1:g.42934277C>T	GRCh37
NC_000006.10:g.43042255C>T	NCBI36
NG_008370.1:g.17705G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2080G>A MANE Select	NP_000278.3:p.Val694Ile
ENST00000304611.13:c.2080G>A MANE Select	ENSP00000303511.8:p.Val694Ile
NM_000287.3:c.2080G>A	NP_000278.3:p.Val694Ile
NM_001316313.1:c.1816G>A	NP_001303242.1:p.Val606Ile
NM_001316313.2:c.1816G>A	NP_001303242.1:p.Val606Ile
NR_133009.1:n.2173G>A
NR_133009.2:n.2111G>A
ENST00000244546.4:c.2080G>A	ENSP00000244546.4:p.Val694Ile
ENST00000304611.12:c.2080G>A	ENSP00000303511.8:p.Val694Ile
XM_011514661.1:c.1996G>A	XP_011512963.1:p.Val666Ile
XM_011514661.2:c.1996G>A	XP_011512963.1:p.Val666Ile
XR_001743466.2:n.3042G>A