Canonical Allele Identifier: CA234544

Gene: PEX6

Linked Data

• ClinVar Variation Id: 167464
• ClinVar RCV Id: RCV000153691 ; RCV001083949 ; RCV001831958 ; RCV004551326
• dbSNP Id: rs61732159
• ExAC: 6:42936039 G / T
• gnomAD v2: 6-42936039-G-T
• gnomAD v3: 6-42968301-G-T
• gnomAD v4: 6-42968301-G-T
• MyVariant Identifiers: chr6:g.42936039G>T (hg19) ; chr6:g.42968301G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42968301G>T , CM000668.2:g.42968301G>T	GRCh38
NC_000006.11:g.42936039G>T , CM000668.1:g.42936039G>T	GRCh37
NC_000006.10:g.43044017G>T	NCBI36
NG_008370.1:g.15943C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1677C>A MANE Select	ENSP00000303511.8:p.Asp559Glu
ENST00000244546.4:c.1677C>A	ENSP00000244546.4:p.Asp559Glu
ENST00000304611.12:c.1677C>A	ENSP00000303511.8:p.Asp559Glu
NM_000287.3:c.1677C>A	NP_000278.3:p.Asp559Glu
NM_001316313.1:c.1413C>A	NP_001303242.1:p.Asp471Glu
NR_133009.1:n.1770C>A
XM_011514661.1:c.1593C>A	XP_011512963.1:p.Asp531Glu
XR_926246.1:n.1658C>A
XM_011514661.2:c.1593C>A	XP_011512963.1:p.Asp531Glu
XR_001743466.2:n.2639C>A
NM_000287.4:c.1677C>A MANE Select	NP_000278.3:p.Asp559Glu
NM_001316313.2:c.1413C>A	NP_001303242.1:p.Asp471Glu
NR_133009.2:n.1708C>A