Canonical Allele Identifier: CA3811585

Gene: PEX6

Linked Data

• ClinVar Variation Id: 356804
• ClinVar RCV Id: RCV000348080 ; RCV002058611 ; RCV004549814
• dbSNP Id: rs368341252
• ExAC: 6:42946199 C / T
• gnomAD v2: 6-42946199-C-T
• gnomAD v3: 6-42978461-C-T
• gnomAD v4: 6-42978461-C-T
• MyVariant Identifiers: chr6:g.42946199C>T (hg19) ; chr6:g.42978461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978461C>T , CM000668.2:g.42978461C>T	GRCh38
NC_000006.11:g.42946199C>T , CM000668.1:g.42946199C>T	GRCh37
NC_000006.10:g.43054177C>T	NCBI36
NG_008370.1:g.5783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.690G>A MANE Select	ENSP00000303511.8:p.Glu230=
ENST00000244546.4:c.690G>A	ENSP00000244546.4:p.Glu230=
ENST00000304611.12:c.690G>A	ENSP00000303511.8:p.Glu230=
NM_000287.3:c.690G>A	NP_000278.3:p.Glu230=
NM_001316313.1:c.618+72G>A	NP_001303242.1:n.618+72G>A
NR_133009.1:n.783G>A
XM_011514661.1:c.690G>A	XP_011512963.1:p.Glu230=
XR_926246.1:n.783G>A
XM_011514661.2:c.690G>A	XP_011512963.1:p.Glu230=
XR_001743466.2:n.1764G>A
NM_000287.4:c.690G>A MANE Select	NP_000278.3:p.Glu230=
NM_001316313.2:c.618+72G>A	NP_001303242.1:n.618+72G>A
NR_133009.2:n.721G>A