Canonical Allele Identifier: CA2573140768

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1609146
• ClinVar RCV Id: RCV002150084
• dbSNP Id: rs2114247807

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969805T>C , CM000668.2:g.42969805T>C	GRCh38
NC_000006.11:g.42937543T>C , CM000668.1:g.42937543T>C	GRCh37
NC_000006.10:g.43045521T>C	NCBI36
NG_008370.1:g.14439A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1234-4A>G MANE Select	ENSP00000303511.8:n.1234-4A>G
ENST00000244546.4:c.1234-4A>G	ENSP00000244546.4:n.1234-4A>G
ENST00000304611.12:c.1234-4A>G	ENSP00000303511.8:n.1234-4A>G
NM_000287.3:c.1234-4A>G	NP_000278.3:n.1234-4A>G
NM_001316313.1:c.970-4A>G	NP_001303242.1:n.970-4A>G
NR_133009.1:n.1327-4A>G
XM_011514661.1:c.1150-4A>G	XP_011512963.1:n.1150-4A>G
XR_926246.1:n.1327-4A>G
XM_011514661.2:c.1150-4A>G	XP_011512963.1:n.1150-4A>G
XR_001743466.2:n.2308-4A>G
NM_000287.4:c.1234-4A>G MANE Select	NP_000278.3:n.1234-4A>G
NM_001316313.2:c.970-4A>G	NP_001303242.1:n.970-4A>G
NR_133009.2:n.1265-4A>G