Canonical Allele Identifier: CA364151525

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965742C>A , CM000668.2:g.42965742C>A	GRCh38
NC_000006.11:g.42933480C>A , CM000668.1:g.42933480C>A	GRCh37
NC_000006.10:g.43041458C>A	NCBI36
NG_008370.1:g.18502G>T
NG_008396.1:g.9981C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2410G>T MANE Select	NP_000278.3:p.Glu804Ter
ENST00000304611.13:c.2410G>T MANE Select	ENSP00000303511.8:p.Glu804Ter
NM_000287.3:c.2410G>T	NP_000278.3:p.Glu804Ter
NM_001316313.1:c.2146G>T	NP_001303242.1:p.Glu716Ter
NM_001316313.2:c.2146G>T	NP_001303242.1:p.Glu716Ter
NR_133009.1:n.2256G>T
NR_133009.2:n.2194G>T
ENST00000244546.4:c.2163G>T	ENSP00000244546.4:p.Met721Ile
ENST00000304611.12:c.2410G>T	ENSP00000303511.8:p.Glu804Ter
XM_011514661.1:c.2326G>T	XP_011512963.1:p.Glu776Ter
XM_011514661.2:c.2326G>T	XP_011512963.1:p.Glu776Ter
XR_001743466.2:n.3372G>T