Canonical Allele Identifier: CA3811222

Gene: PEX6

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.1774G>C MANE Select	NP_000278.3:p.Glu592Gln
ENST00000304611.13:c.1774G>C MANE Select	ENSP00000303511.8:p.Glu592Gln
NM_000287.3:c.1774G>C	NP_000278.3:p.Glu592Gln
NM_001316313.1:c.1510G>C	NP_001303242.1:p.Glu504Gln
NM_001316313.2:c.1510G>C	NP_001303242.1:p.Glu504Gln
NR_133009.1:n.1867G>C
NR_133009.2:n.1805G>C
ENST00000244546.4:c.1774G>C	ENSP00000244546.4:p.Glu592Gln
ENST00000304611.12:c.1774G>C	ENSP00000303511.8:p.Glu592Gln
XM_011514661.1:c.1690G>C	XP_011512963.1:p.Glu564Gln
XM_011514661.2:c.1690G>C	XP_011512963.1:p.Glu564Gln
XR_001743466.2:n.2736G>C
XR_926246.1:n.1755G>C