Canonical Allele Identifier: CA364153666

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42967478C>A , CM000668.2:g.42967478C>A	GRCh38
NC_000006.11:g.42935216C>A , CM000668.1:g.42935216C>A	GRCh37
NC_000006.10:g.43043194C>A	NCBI36
NG_008370.1:g.16766G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.1774G>T MANE Select	NP_000278.3:p.Glu592Ter
ENST00000304611.13:c.1774G>T MANE Select	ENSP00000303511.8:p.Glu592Ter
NM_000287.3:c.1774G>T	NP_000278.3:p.Glu592Ter
NM_001316313.1:c.1510G>T	NP_001303242.1:p.Glu504Ter
NM_001316313.2:c.1510G>T	NP_001303242.1:p.Glu504Ter
NR_133009.1:n.1867G>T
NR_133009.2:n.1805G>T
ENST00000244546.4:c.1774G>T	ENSP00000244546.4:p.Glu592Ter
ENST00000304611.12:c.1774G>T	ENSP00000303511.8:p.Glu592Ter
XM_011514661.1:c.1690G>T	XP_011512963.1:p.Glu564Ter
XM_011514661.2:c.1690G>T	XP_011512963.1:p.Glu564Ter
XR_001743466.2:n.2736G>T
XR_926246.1:n.1755G>T