Canonical Allele Identifier: CA450366431

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978470C>T , CM000668.2:g.42978470C>T	GRCh38
NC_000006.11:g.42946208C>T , CM000668.1:g.42946208C>T	GRCh37
NC_000006.10:g.43054186C>T	NCBI36
NG_008370.1:g.5774G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.681G>A MANE Select	NP_000278.3:p.Gln227=
ENST00000304611.13:c.681G>A MANE Select	ENSP00000303511.8:p.Gln227=
NM_000287.3:c.681G>A	NP_000278.3:p.Gln227=
NM_001316313.1:c.618+63G>A	NP_001303242.1:n.618+63G>A
NM_001316313.2:c.618+63G>A	NP_001303242.1:n.618+63G>A
NR_133009.1:n.774G>A
NR_133009.2:n.712G>A
ENST00000244546.4:c.681G>A	ENSP00000244546.4:p.Gln227=
ENST00000304611.12:c.681G>A	ENSP00000303511.8:p.Gln227=
XM_011514661.1:c.681G>A	XP_011512963.1:p.Gln227=
XM_011514661.2:c.681G>A	XP_011512963.1:p.Gln227=
XR_001743466.2:n.1755G>A
XR_926246.1:n.774G>A