Canonical Allele Identifier: CA3811141

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42966593C>T , CM000668.2:g.42966593C>T	GRCh38
NC_000006.11:g.42934331C>T , CM000668.1:g.42934331C>T	GRCh37
NC_000006.10:g.43042309C>T	NCBI36
NG_008370.1:g.17651G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2026G>A MANE Select	NP_000278.3:p.Ala676Thr
ENST00000304611.13:c.2026G>A MANE Select	ENSP00000303511.8:p.Ala676Thr
NM_000287.3:c.2026G>A	NP_000278.3:p.Ala676Thr
NM_001316313.1:c.1762G>A	NP_001303242.1:p.Ala588Thr
NM_001316313.2:c.1762G>A	NP_001303242.1:p.Ala588Thr
NR_133009.1:n.2119G>A
NR_133009.2:n.2057G>A
ENST00000244546.4:c.2026G>A	ENSP00000244546.4:p.Ala676Thr
ENST00000304611.12:c.2026G>A	ENSP00000303511.8:p.Ala676Thr
XM_011514661.1:c.1942G>A	XP_011512963.1:p.Ala648Thr
XM_011514661.2:c.1942G>A	XP_011512963.1:p.Ala648Thr
XR_001743466.2:n.2988G>A
XR_926246.1:n.2007G>A