Canonical Allele Identifier: CA364152575

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42966524C>T , CM000668.2:g.42966524C>T	GRCh38
NC_000006.11:g.42934262C>T , CM000668.1:g.42934262C>T	GRCh37
NC_000006.10:g.43042240C>T	NCBI36
NG_008370.1:g.17720G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2094+1G>A MANE Select	NP_000278.3:n.2094+1G>A
ENST00000304611.13:c.2094+1G>A MANE Select	ENSP00000303511.8:n.2094+1G>A
NM_000287.3:c.2094+1G>A	NP_000278.3:n.2094+1G>A
NM_001316313.1:c.1830+1G>A	NP_001303242.1:n.1830+1G>A
NM_001316313.2:c.1830+1G>A	NP_001303242.1:n.1830+1G>A
NR_133009.1:n.2188G>A
NR_133009.2:n.2126G>A
ENST00000244546.4:c.2095G>A	ENSP00000244546.4:p.Val699Met
ENST00000304611.12:c.2094+1G>A	ENSP00000303511.8:n.2094+1G>A
XM_011514661.1:c.2010+1G>A	XP_011512963.1:n.2010+1G>A
XM_011514661.2:c.2010+1G>A	XP_011512963.1:n.2010+1G>A
XR_001743466.2:n.3056+1G>A