Canonical Allele Identifier: CA583974

Gene: PEX14

Linked Data

• ClinVar Variation Id: 286703
• ClinVar RCV Id: RCV000317627 ; RCV000346590 ; RCV000887202
• dbSNP Id: rs143412169
• ExAC: 1:10689735 G / A
• gnomAD v2: 1-10689735-G-A
• gnomAD v3: 1-10629678-G-A
• gnomAD v4: 1-10629678-G-A
• MyVariant Identifiers: chr1:g.10689735G>A (hg19) ; chr1:g.10629678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10629678G>A , CM000663.2:g.10629678G>A	GRCh38
NC_000001.10:g.10689735G>A , CM000663.1:g.10689735G>A	GRCh37
NC_000001.9:g.10612322G>A	NCBI36
NG_008340.1:g.159733G>A
NG_008340.2:g.159733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356607.9:c.825G>A MANE Select	ENSP00000349016.4:p.Ser275=
ENST00000356607.8:c.825G>A	ENSP00000349016.4:p.Ser275=
NM_004565.2:c.825G>A	NP_004556.1:p.Ser275=
XM_005263470.3:c.633G>A	XP_005263527.1:p.Ser211=
XM_011541577.1:c.867G>A	XP_011539879.1:p.Ser289=
XM_011541578.1:c.768G>A	XP_011539880.1:p.Ser256=
XM_011541579.1:c.738G>A	XP_011539881.1:p.Ser246=
XM_011541580.1:c.696G>A	XP_011539882.1:p.Ser232=
XM_005263470.5:c.633G>A	XP_005263527.1:p.Ser211=
XM_011541577.2:c.867G>A	XP_011539879.1:p.Ser289=
XM_011541578.2:c.768G>A	XP_011539880.1:p.Ser256=
XM_011541579.3:c.738G>A	XP_011539881.1:p.Ser246=
XM_024447651.1:c.633G>A	XP_024303419.1:p.Ser211=
NM_004565.3:c.825G>A MANE Select	NP_004556.1:p.Ser275=