Canonical Allele Identifier: CA3811221

Gene: PEX6

Linked Data

• ClinVar Variation Id: 499214
• ClinVar RCV Id: RCV000597455 ; RCV001080745 ; RCV002532450 ; RCV004553317
• dbSNP Id: rs375288192
• ExAC: 6:42935216 C / T
• gnomAD v2: 6-42935216-C-T
• gnomAD v3: 6-42967478-C-T
• gnomAD v4: 6-42967478-C-T
• MyVariant Identifiers: chr6:g.42935216C>T (hg19) ; chr6:g.42967478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42967478C>T , CM000668.2:g.42967478C>T	GRCh38
NC_000006.11:g.42935216C>T , CM000668.1:g.42935216C>T	GRCh37
NC_000006.10:g.43043194C>T	NCBI36
NG_008370.1:g.16766G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1774G>A MANE Select	ENSP00000303511.8:p.Glu592Lys
ENST00000244546.4:c.1774G>A	ENSP00000244546.4:p.Glu592Lys
ENST00000304611.12:c.1774G>A	ENSP00000303511.8:p.Glu592Lys
NM_000287.3:c.1774G>A	NP_000278.3:p.Glu592Lys
NM_001316313.1:c.1510G>A	NP_001303242.1:p.Glu504Lys
NR_133009.1:n.1867G>A
XM_011514661.1:c.1690G>A	XP_011512963.1:p.Glu564Lys
XR_926246.1:n.1755G>A
XM_011514661.2:c.1690G>A	XP_011512963.1:p.Glu564Lys
XR_001743466.2:n.2736G>A
NM_000287.4:c.1774G>A MANE Select	NP_000278.3:p.Glu592Lys
NM_001316313.2:c.1510G>A	NP_001303242.1:p.Glu504Lys
NR_133009.2:n.1805G>A