Canonical Allele Identifier: CA583712

Gene: PEX14

Linked Data

• ClinVar Variation Id: 499591
• ClinVar RCV Id: RCV000597054 ; RCV001467244
• dbSNP Id: rs139797106
• ExAC: 1:10596278 G / A
• gnomAD v2: 1-10596278-G-A
• gnomAD v3: 1-10536221-G-A
• gnomAD v4: 1-10536221-G-A
• MyVariant Identifiers: chr1:g.10596278G>A (hg19) ; chr1:g.10536221G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10536221G>A , CM000663.2:g.10536221G>A	GRCh38
NC_000001.10:g.10596278G>A , CM000663.1:g.10596278G>A	GRCh37
NC_000001.9:g.10518865G>A	NCBI36
NG_008340.1:g.66276G>A
NG_008340.2:g.66276G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356607.9:c.93G>A MANE Select	ENSP00000349016.4:p.Thr31=
ENST00000356607.8:c.93G>A	ENSP00000349016.4:p.Thr31=
ENST00000472851.1:n.454G>A
ENST00000491661.2:c.78G>A	ENSP00000465473.1:p.Thr26=
ENST00000492696.1:n.182G>A
NM_004565.2:c.93G>A	NP_004556.1:p.Thr31=
XM_005263470.3:c.-100G>A	XP_005263527.1:n.-100G>A
XM_011541577.1:c.135G>A	XP_011539879.1:p.Thr45=
XM_011541578.1:c.36G>A	XP_011539880.1:p.Thr12=
XM_011541579.1:c.135G>A	XP_011539881.1:p.Thr45=
XM_011541580.1:c.93G>A	XP_011539882.1:p.Thr31=
XM_005263470.5:c.-100G>A	XP_005263527.1:n.-100G>A
XM_011541577.2:c.135G>A	XP_011539879.1:p.Thr45=
XM_011541578.2:c.36G>A	XP_011539880.1:p.Thr12=
XM_011541579.3:c.135G>A	XP_011539881.1:p.Thr45=
XM_024447651.1:c.-100G>A	XP_024303419.1:n.-100G>A
NM_004565.3:c.93G>A MANE Select	NP_004556.1:p.Thr31=