Canonical Allele Identifier: CA3810921

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42964862C>T , CM000668.2:g.42964862C>T	GRCh38
NC_000006.11:g.42932600C>T , CM000668.1:g.42932600C>T	GRCh37
NC_000006.10:g.43040578C>T	NCBI36
NG_008370.1:g.19382G>A
NG_008396.1:g.9101C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2734G>A MANE Select	NP_000278.3:p.Ala912Thr
ENST00000304611.13:c.2734G>A MANE Select	ENSP00000303511.8:p.Ala912Thr
NM_000287.3:c.2734G>A	NP_000278.3:p.Ala912Thr
NM_001316313.1:c.2470G>A	NP_001303242.1:p.Ala824Thr
NM_001316313.2:c.2470G>A	NP_001303242.1:p.Ala824Thr
NR_133009.1:n.2580G>A
NR_133009.2:n.2518G>A
ENST00000244546.4:c.2487G>A	ENSP00000244546.4:n.2487G>A
ENST00000304611.12:c.2734G>A	ENSP00000303511.8:p.Ala912Thr
XM_011514661.1:c.2650G>A	XP_011512963.1:p.Ala884Thr
XM_011514661.2:c.2650G>A	XP_011512963.1:p.Ala884Thr
XR_001743466.2:n.3696G>A