Canonical Allele Identifier: CA4029453

Gene: PEX3

Linked Data

• ClinVar Variation Id: 2100354
• ClinVar RCV Id: RCV003014354 ; RCV003916712
• dbSNP Id: rs570021822
• ExAC: 6:143780212 A / T
• gnomAD v2: 6-143780212-A-T
• gnomAD v3: 6-143459075-A-T
• gnomAD v4: 6-143459075-A-T
• MyVariant Identifiers: chr6:g.143780212A>T (hg19) ; chr6:g.143459075A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143459075A>T , CM000668.2:g.143459075A>T	GRCh38
NC_000006.11:g.143780212A>T , CM000668.1:g.143780212A>T	GRCh37
NC_000006.10:g.143821905A>T	NCBI36
NG_008459.1:g.13295A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.74-10A>T MANE Select	ENSP00000356563.4:n.74-10A>T
ENST00000367591.4:c.74-10A>T	ENSP00000356563.4:n.74-10A>T
ENST00000367592.5:c.74-3841A>T	ENSP00000356564.1:n.74-3841A>T
NM_003630.2:c.74-10A>T	NP_003621.1:n.74-10A>T
NM_003630.3:c.74-10A>T MANE Select	NP_003621.1:n.74-10A>T