Canonical Allele Identifier: CA138222058

Gene: PEX6

Linked Data

• ClinVar Variation Id: 492968
• ClinVar RCV Id: RCV000802431 ; RCV002248804
• dbSNP Id: rs61753230
• MyVariant Identifiers: chr6:g.42933000G>A (hg19) ; chr6:g.42965262G>A (hg38)
• PubMed: PMID:29220678

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965262G>A , CM000668.2:g.42965262G>A	GRCh38
NC_000006.11:g.42933000G>A , CM000668.1:g.42933000G>A	GRCh37
NC_000006.10:g.43040978G>A	NCBI36
NG_008370.1:g.18982C>T
NG_008396.1:g.9501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2578C>T MANE Select	ENSP00000303511.8:p.Arg860Trp
ENST00000244546.4:c.2331C>T	ENSP00000244546.4:n.2331C>T
ENST00000304611.12:c.2578C>T	ENSP00000303511.8:p.Arg860Trp
NM_000287.3:c.2578C>T	NP_000278.3:p.Arg860Trp
NM_001316313.1:c.2314C>T	NP_001303242.1:p.Arg772Trp
NR_133009.1:n.2424C>T
XM_011514661.1:c.2494C>T	XP_011512963.1:p.Arg832Trp
XM_011514661.2:c.2494C>T	XP_011512963.1:p.Arg832Trp
XR_001743466.2:n.3540C>T
NM_000287.4:c.2578C>T MANE Select	NP_000278.3:p.Arg860Trp
NM_001316313.2:c.2314C>T	NP_001303242.1:p.Arg772Trp
NR_133009.2:n.2362C>T