Canonical Allele Identifier: CA450253275

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965293G>A , CM000668.2:g.42965293G>A	GRCh38
NC_000006.11:g.42933031G>A , CM000668.1:g.42933031G>A	GRCh37
NC_000006.10:g.43041009G>A	NCBI36
NG_008370.1:g.18951C>T
NG_008396.1:g.9532G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2547C>T MANE Select	NP_000278.3:p.Asn849=
ENST00000304611.13:c.2547C>T MANE Select	ENSP00000303511.8:p.Asn849=
NM_000287.3:c.2547C>T	NP_000278.3:p.Asn849=
NM_001316313.1:c.2283C>T	NP_001303242.1:p.Asn761=
NM_001316313.2:c.2283C>T	NP_001303242.1:p.Asn761=
NR_133009.1:n.2393C>T
NR_133009.2:n.2331C>T
ENST00000244546.4:c.2300C>T	ENSP00000244546.4:n.2300C>T
ENST00000304611.12:c.2547C>T	ENSP00000303511.8:p.Asn849=
XM_011514661.1:c.2463C>T	XP_011512963.1:p.Asn821=
XM_011514661.2:c.2463C>T	XP_011512963.1:p.Asn821=
XR_001743466.2:n.3509C>T