Canonical Allele Identifier: CA10622119

Gene: PEX6

Linked Data

• ClinVar Variation Id: 356803
• ClinVar RCV Id: RCV000290746 ; RCV000671710 ; RCV002519498
• dbSNP Id: rs886061412
• gnomAD v4: 6-42978433-C-T
• MyVariant Identifiers: chr6:g.42946171C>T (hg19) ; chr6:g.42978433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978433C>T , CM000668.2:g.42978433C>T	GRCh38
NC_000006.11:g.42946171C>T , CM000668.1:g.42946171C>T	GRCh37
NC_000006.10:g.43054149C>T	NCBI36
NG_008370.1:g.5811G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.718G>A MANE Select	ENSP00000303511.8:p.Ala240Thr
ENST00000244546.4:c.718G>A	ENSP00000244546.4:p.Ala240Thr
ENST00000304611.12:c.718G>A	ENSP00000303511.8:p.Ala240Thr
NM_000287.3:c.718G>A	NP_000278.3:p.Ala240Thr
NM_001316313.1:c.618+100G>A	NP_001303242.1:n.618+100G>A
NR_133009.1:n.811G>A
XM_011514661.1:c.718G>A	XP_011512963.1:p.Ala240Thr
XR_926246.1:n.811G>A
XM_011514661.2:c.718G>A	XP_011512963.1:p.Ala240Thr
XR_001743466.2:n.1792G>A
NM_000287.4:c.718G>A MANE Select	NP_000278.3:p.Ala240Thr
NM_001316313.2:c.618+100G>A	NP_001303242.1:n.618+100G>A
NR_133009.2:n.749G>A