Canonical Allele Identifier: CA3811137

Gene: PEX6

Linked Data

• ClinVar Variation Id: 500963
• ClinVar RCV Id: RCV000596492 ; RCV001051856 ; RCV001834900
• dbSNP Id: rs748535121
• ExAC: 6:42934279 G / T
• gnomAD v2: 6-42934279-G-T
• gnomAD v3: 6-42966541-G-T
• gnomAD v4: 6-42966541-G-T
• MyVariant Identifiers: chr6:g.42934279G>T (hg19) ; chr6:g.42966541G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42966541G>T , CM000668.2:g.42966541G>T	GRCh38
NC_000006.11:g.42934279G>T , CM000668.1:g.42934279G>T	GRCh37
NC_000006.10:g.43042257G>T	NCBI36
NG_008370.1:g.17703C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2078C>A MANE Select	ENSP00000303511.8:p.Ala693Asp
ENST00000244546.4:c.2078C>A	ENSP00000244546.4:p.Ala693Asp
ENST00000304611.12:c.2078C>A	ENSP00000303511.8:p.Ala693Asp
NM_000287.3:c.2078C>A	NP_000278.3:p.Ala693Asp
NM_001316313.1:c.1814C>A	NP_001303242.1:p.Ala605Asp
NR_133009.1:n.2171C>A
XM_011514661.1:c.1994C>A	XP_011512963.1:p.Ala665Asp
XM_011514661.2:c.1994C>A	XP_011512963.1:p.Ala665Asp
XR_001743466.2:n.3040C>A
NM_000287.4:c.2078C>A MANE Select	NP_000278.3:p.Ala693Asp
NM_001316313.2:c.1814C>A	NP_001303242.1:p.Ala605Asp
NR_133009.2:n.2109C>A