Canonical Allele Identifier: CA3810890

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42964462G>C , CM000668.2:g.42964462G>C	GRCh38
NC_000006.11:g.42932200G>C , CM000668.1:g.42932200G>C	GRCh37
NC_000006.10:g.43040178G>C	NCBI36
NG_008370.1:g.19782C>G
NG_008396.1:g.8701G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2816C>G MANE Select	ENSP00000303511.8:p.Pro939Arg
ENST00000244546.4:c.2569C>G	ENSP00000244546.4:n.2569C>G
ENST00000304611.12:c.2816C>G	ENSP00000303511.8:p.Pro939Arg
NM_000287.3:c.2816C>G	NP_000278.3:p.Pro939Arg
NM_001316313.1:c.2552C>G	NP_001303242.1:p.Pro851Arg
NR_133009.1:n.2662C>G
XM_011514661.1:c.2732C>G	XP_011512963.1:p.Pro911Arg
XM_011514661.2:c.2732C>G	XP_011512963.1:p.Pro911Arg
XR_001743466.2:n.3778C>G
NM_000287.4:c.2816C>G MANE Select	NP_000278.3:p.Pro939Arg
NM_001316313.2:c.2552C>G	NP_001303242.1:p.Pro851Arg
NR_133009.2:n.2600C>G