Canonical Allele Identifier: CA3811390

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1663908
• ClinVar RCV Id: RCV002181609
• dbSNP Id: rs751884285
• ExAC: 6:42937559 G / A
• gnomAD v2: 6-42937559-G-A
• gnomAD v3: 6-42969821-G-A
• gnomAD v4: 6-42969821-G-A
• MyVariant Identifiers: chr6:g.42937559G>A (hg19) ; chr6:g.42969821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969821G>A , CM000668.2:g.42969821G>A	GRCh38
NC_000006.11:g.42937559G>A , CM000668.1:g.42937559G>A	GRCh37
NC_000006.10:g.43045537G>A	NCBI36
NG_008370.1:g.14423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1234-20C>T MANE Select	ENSP00000303511.8:n.1234-20C>T
ENST00000244546.4:c.1234-20C>T	ENSP00000244546.4:n.1234-20C>T
ENST00000304611.12:c.1234-20C>T	ENSP00000303511.8:n.1234-20C>T
NM_000287.3:c.1234-20C>T	NP_000278.3:n.1234-20C>T
NM_001316313.1:c.970-20C>T	NP_001303242.1:n.970-20C>T
NR_133009.1:n.1327-20C>T
XM_011514661.1:c.1150-20C>T	XP_011512963.1:n.1150-20C>T
XR_926246.1:n.1327-20C>T
XM_011514661.2:c.1150-20C>T	XP_011512963.1:n.1150-20C>T
XR_001743466.2:n.2308-20C>T
NM_000287.4:c.1234-20C>T MANE Select	NP_000278.3:n.1234-20C>T
NM_001316313.2:c.970-20C>T	NP_001303242.1:n.970-20C>T
NR_133009.2:n.1265-20C>T