Canonical Allele Identifier: CA583747

Gene: PEX14

Linked Data

• ClinVar Variation Id: 499128
• ClinVar RCV Id: RCV000592439 ; RCV002062040 ; RCV003962680
• dbSNP Id: rs764907398
• ExAC: 1:10659291 C / A
• gnomAD v2: 1-10659291-C-A
• gnomAD v4: 1-10599234-C-A
• MyVariant Identifiers: chr1:g.10659291C>A (hg19) ; chr1:g.10599234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10599234C>A , CM000663.2:g.10599234C>A	GRCh38
NC_000001.10:g.10659291C>A , CM000663.1:g.10659291C>A	GRCh37
NC_000001.9:g.10581878C>A	NCBI36
NG_008340.1:g.129289C>A
NG_008340.2:g.129289C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356607.9:c.170-4C>A MANE Select	ENSP00000349016.4:n.170-4C>A
ENST00000356607.8:c.170-4C>A	ENSP00000349016.4:n.170-4C>A
ENST00000491661.2:c.155-4C>A	ENSP00000465473.1:n.155-4C>A
NM_004565.2:c.170-4C>A	NP_004556.1:n.170-4C>A
XM_005263470.3:c.-23-4C>A	XP_005263527.1:n.-23-4C>A
XM_011541577.1:c.212-4C>A	XP_011539879.1:n.212-4C>A
XM_011541578.1:c.113-4C>A	XP_011539880.1:n.113-4C>A
XM_011541579.1:c.212-19098C>A	XP_011539881.1:n.212-19098C>A
XM_011541580.1:c.170-19098C>A	XP_011539882.1:n.170-19098C>A
XM_005263470.5:c.-23-4C>A	XP_005263527.1:n.-23-4C>A
XM_011541577.2:c.212-4C>A	XP_011539879.1:n.212-4C>A
XM_011541578.2:c.113-4C>A	XP_011539880.1:n.113-4C>A
XM_011541579.3:c.212-19098C>A	XP_011539881.1:n.212-19098C>A
XM_024447651.1:c.-23-4C>A	XP_024303419.1:n.-23-4C>A
NM_004565.3:c.170-4C>A MANE Select	NP_004556.1:n.170-4C>A