Canonical Allele Identifier: CA583790

Gene: PEX14

Linked Data

• ClinVar Variation Id: 288364
• ClinVar RCV Id: RCV000351423 ; RCV001085340 ; RCV003957497
• dbSNP Id: rs112851814
• ExAC: 1:10678381 G / A
• gnomAD v2: 1-10678381-G-A
• gnomAD v3: 1-10618324-G-A
• gnomAD v4: 1-10618324-G-A
• MyVariant Identifiers: chr1:g.10678381G>A (hg19) ; chr1:g.10618324G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10618324G>A , CM000663.2:g.10618324G>A	GRCh38
NC_000001.10:g.10678381G>A , CM000663.1:g.10678381G>A	GRCh37
NC_000001.9:g.10600968G>A	NCBI36
NG_008340.1:g.148379G>A
NG_008340.2:g.148379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356607.9:c.299-8G>A MANE Select	ENSP00000349016.4:n.299-8G>A
ENST00000356607.8:c.299-8G>A	ENSP00000349016.4:n.299-8G>A
ENST00000491661.2:c.284-8G>A	ENSP00000465473.1:n.284-8G>A
NM_004565.2:c.299-8G>A	NP_004556.1:n.299-8G>A
XM_005263470.3:c.107-8G>A	XP_005263527.1:n.107-8G>A
XM_011541577.1:c.341-8G>A	XP_011539879.1:n.341-8G>A
XM_011541578.1:c.242-8G>A	XP_011539880.1:n.242-8G>A
XM_011541579.1:c.212-8G>A	XP_011539881.1:n.212-8G>A
XM_011541580.1:c.170-8G>A	XP_011539882.1:n.170-8G>A
XM_005263470.5:c.107-8G>A	XP_005263527.1:n.107-8G>A
XM_011541577.2:c.341-8G>A	XP_011539879.1:n.341-8G>A
XM_011541578.2:c.242-8G>A	XP_011539880.1:n.242-8G>A
XM_011541579.3:c.212-8G>A	XP_011539881.1:n.212-8G>A
XM_024447651.1:c.107-8G>A	XP_024303419.1:n.107-8G>A
NM_004565.3:c.299-8G>A MANE Select	NP_004556.1:n.299-8G>A