Canonical Allele Identifier: CA10606197

Gene: PEX6

Linked Data

• ClinVar Variation Id: 288713
• ClinVar RCV Id: RCV000294422 ; RCV003229590
• dbSNP Id: rs886043987
• MyVariant Identifiers: chr6:g.42937636G>T (hg19) ; chr6:g.42969898G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969898G>T , CM000668.2:g.42969898G>T	GRCh38
NC_000006.11:g.42937636G>T , CM000668.1:g.42937636G>T	GRCh37
NC_000006.10:g.43045614G>T	NCBI36
NG_008370.1:g.14346C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1220C>A MANE Select	ENSP00000303511.8:p.Thr407Asn
ENST00000244546.4:c.1220C>A	ENSP00000244546.4:p.Thr407Asn
ENST00000304611.12:c.1220C>A	ENSP00000303511.8:p.Thr407Asn
NM_000287.3:c.1220C>A	NP_000278.3:p.Thr407Asn
NM_001316313.1:c.956C>A	NP_001303242.1:p.Thr319Asn
NR_133009.1:n.1313C>A
XM_011514661.1:c.1136C>A	XP_011512963.1:p.Thr379Asn
XR_926246.1:n.1313C>A
XM_011514661.2:c.1136C>A	XP_011512963.1:p.Thr379Asn
XR_001743466.2:n.2294C>A
NM_000287.4:c.1220C>A MANE Select	NP_000278.3:p.Thr407Asn
NM_001316313.2:c.956C>A	NP_001303242.1:p.Thr319Asn
NR_133009.2:n.1251C>A