Canonical Allele Identifier: CA583666

Gene: PEX14

Linked Data

• ClinVar Variation Id: 259436
• ClinVar RCV Id: RCV000248358 ; RCV000298360 ; RCV000887578
• dbSNP Id: rs200154696
• ExAC: 1:10535067 G / A
• gnomAD v2: 1-10535067-G-A
• gnomAD v3: 1-10475010-G-A
• gnomAD v4: 1-10475010-G-A
• MyVariant Identifiers: chr1:g.10535067G>A (hg19) ; chr1:g.10475010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10475010G>A , CM000663.2:g.10475010G>A	GRCh38
NC_000001.10:g.10535067G>A , CM000663.1:g.10535067G>A	GRCh37
NC_000001.9:g.10457654G>A	NCBI36
NG_008340.1:g.5065G>A
NG_029098.1:g.2547C>T
NG_008340.2:g.5065G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356607.9:c.36+8G>A MANE Select	ENSP00000349016.4:n.36+8G>A
ENST00000356607.8:c.36+8G>A	ENSP00000349016.4:n.36+8G>A
ENST00000472851.1:n.293+2430G>A
ENST00000491661.2:c.21+8G>A	ENSP00000465473.1:n.21+8G>A
NM_004565.2:c.36+8G>A	NP_004556.1:n.36+8G>A
XM_011541580.1:c.36+8G>A	XP_011539882.1:n.36+8G>A
NM_004565.3:c.36+8G>A MANE Select	NP_004556.1:n.36+8G>A