Canonical Allele Identifier: CA3811273

Gene: PEX6

Linked Data

• ClinVar Variation Id: 255738
• ClinVar RCV Id: RCV000244237 ; RCV000514084 ; RCV000987702 ; RCV001082436 ; RCV001276733
• dbSNP Id: rs115960224
• ExAC: 6:42936070 G / A
• gnomAD v2: 6-42936070-G-A
• gnomAD v3: 6-42968332-G-A
• gnomAD v4: 6-42968332-G-A
• MyVariant Identifiers: chr6:g.42936070G>A (hg19) ; chr6:g.42968332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42968332G>A , CM000668.2:g.42968332G>A	GRCh38
NC_000006.11:g.42936070G>A , CM000668.1:g.42936070G>A	GRCh37
NC_000006.10:g.43044048G>A	NCBI36
NG_008370.1:g.15912C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304611.13:c.1646C>T MANE Select	ENSP00000303511.8:p.Ala549Val
ENST00000244546.4:c.1646C>T	ENSP00000244546.4:p.Ala549Val
ENST00000304611.12:c.1646C>T	ENSP00000303511.8:p.Ala549Val
NM_000287.3:c.1646C>T	NP_000278.3:p.Ala549Val
NM_001316313.1:c.1382C>T	NP_001303242.1:p.Ala461Val
NR_133009.1:n.1739C>T
XM_011514661.1:c.1562C>T	XP_011512963.1:p.Ala521Val
XR_926246.1:n.1627C>T
XM_011514661.2:c.1562C>T	XP_011512963.1:p.Ala521Val
XR_001743466.2:n.2608C>T
NM_000287.4:c.1646C>T MANE Select	NP_000278.3:p.Ala549Val
NM_001316313.2:c.1382C>T	NP_001303242.1:p.Ala461Val
NR_133009.2:n.1677C>T