Canonical Allele Identifier: CA364155823

Gene: PEX6

Linked Data

• dbSNP Id: rs1381041583
• gnomAD v2: 6-42937497-C-T
• gnomAD v4: 6-42969759-C-T
• MyVariant Identifiers: chr6:g.42937497C>T (hg19) ; chr6:g.42969759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969759C>T , CM000668.2:g.42969759C>T	GRCh38
NC_000006.11:g.42937497C>T , CM000668.1:g.42937497C>T	GRCh37
NC_000006.10:g.43045475C>T	NCBI36
NG_008370.1:g.14485G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1276G>A MANE Select	ENSP00000303511.8:p.Glu426Lys
ENST00000244546.4:c.1276G>A	ENSP00000244546.4:p.Glu426Lys
ENST00000304611.12:c.1276G>A	ENSP00000303511.8:p.Glu426Lys
NM_000287.3:c.1276G>A	NP_000278.3:p.Glu426Lys
NM_001316313.1:c.1012G>A	NP_001303242.1:p.Glu338Lys
NR_133009.1:n.1369G>A
XM_011514661.1:c.1192G>A	XP_011512963.1:p.Glu398Lys
XR_926246.1:n.1369G>A
XM_011514661.2:c.1192G>A	XP_011512963.1:p.Glu398Lys
XR_001743466.2:n.2350G>A
NM_000287.4:c.1276G>A MANE Select	NP_000278.3:p.Glu426Lys
NM_001316313.2:c.1012G>A	NP_001303242.1:p.Glu338Lys
NR_133009.2:n.1307G>A