Canonical Allele Identifier: CA3811549

Gene: PEX6

Linked Data

• ClinVar Variation Id: 285539
• ClinVar RCV Id: RCV000344101 ; RCV000387310 ; RCV000709968 ; RCV001276622 ; RCV002225576 ; RCV004547701
• dbSNP Id: rs61753220
• ExAC: 6:42946036 G / C
• gnomAD v2: 6-42946036-G-C
• gnomAD v3: 6-42978298-G-C
• gnomAD v4: 6-42978298-G-C
• MyVariant Identifiers: chr6:g.42946036G>C (hg19) ; chr6:g.42978298G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978298G>C , CM000668.2:g.42978298G>C	GRCh38
NC_000006.11:g.42946036G>C , CM000668.1:g.42946036G>C	GRCh37
NC_000006.10:g.43054014G>C	NCBI36
NG_008370.1:g.5946C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.853C>G MANE Select	ENSP00000303511.8:p.Pro285Ala
ENST00000244546.4:c.853C>G	ENSP00000244546.4:p.Pro285Ala
ENST00000304611.12:c.853C>G	ENSP00000303511.8:p.Pro285Ala
NM_000287.3:c.853C>G	NP_000278.3:p.Pro285Ala
NM_001316313.1:c.618+235C>G	NP_001303242.1:n.618+235C>G
NR_133009.1:n.946C>G
XM_011514661.1:c.853C>G	XP_011512963.1:p.Pro285Ala
XR_926246.1:n.946C>G
XM_011514661.2:c.853C>G	XP_011512963.1:p.Pro285Ala
XR_001743466.2:n.1927C>G
NM_000287.4:c.853C>G MANE Select	NP_000278.3:p.Pro285Ala
NM_001316313.2:c.618+235C>G	NP_001303242.1:n.618+235C>G
NR_133009.2:n.884C>G