Canonical Allele Identifier: CA3811017

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965717C>T , CM000668.2:g.42965717C>T	GRCh38
NC_000006.11:g.42933455C>T , CM000668.1:g.42933455C>T	GRCh37
NC_000006.10:g.43041433C>T	NCBI36
NG_008370.1:g.18527G>A
NG_008396.1:g.9956C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2435G>A MANE Select	NP_000278.3:p.Arg812Gln
ENST00000304611.13:c.2435G>A MANE Select	ENSP00000303511.8:p.Arg812Gln
NM_000287.3:c.2435G>A	NP_000278.3:p.Arg812Gln
NM_001316313.1:c.2171G>A	NP_001303242.1:p.Arg724Gln
NM_001316313.2:c.2171G>A	NP_001303242.1:p.Arg724Gln
NR_133009.1:n.2281G>A
NR_133009.2:n.2219G>A
ENST00000244546.4:c.2188G>A	ENSP00000244546.4:p.Gly730Arg
ENST00000304611.12:c.2435G>A	ENSP00000303511.8:p.Arg812Gln
XM_011514661.1:c.2351G>A	XP_011512963.1:p.Arg784Gln
XM_011514661.2:c.2351G>A	XP_011512963.1:p.Arg784Gln
XR_001743466.2:n.3397G>A