Canonical Allele Identifier: CA2580074556

Gene: PEX6

Linked Data

• ClinVar Variation Id: 2161894
• ClinVar RCV Id: RCV003089731

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42964784G>A , CM000668.2:g.42964784G>A	GRCh38
NC_000006.11:g.42932522G>A , CM000668.1:g.42932522G>A	GRCh37
NC_000006.10:g.43040500G>A	NCBI36
NG_008370.1:g.19460C>T
NG_008396.1:g.9023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2806+6C>T MANE Select	ENSP00000303511.8:n.2806+6C>T
ENST00000244546.4:c.2559+6C>T	ENSP00000244546.4:n.2559+6C>T
ENST00000304611.12:c.2806+6C>T	ENSP00000303511.8:n.2806+6C>T
NM_000287.3:c.2806+6C>T	NP_000278.3:n.2806+6C>T
NM_001316313.1:c.2542+6C>T	NP_001303242.1:n.2542+6C>T
NR_133009.1:n.2652+6C>T
XM_011514661.1:c.2722+6C>T	XP_011512963.1:n.2722+6C>T
XM_011514661.2:c.2722+6C>T	XP_011512963.1:n.2722+6C>T
XR_001743466.2:n.3768+6C>T
NM_000287.4:c.2806+6C>T MANE Select	NP_000278.3:n.2806+6C>T
NM_001316313.2:c.2542+6C>T	NP_001303242.1:n.2542+6C>T
NR_133009.2:n.2590+6C>T