Canonical Allele Identifier: CA4029624

Gene: PEX3

Linked Data

• ClinVar Variation Id: 289544
• ClinVar RCV Id: RCV000351375 ; RCV001156184
• dbSNP Id: rs200807211
• ExAC: 6:143792756 A / G
• gnomAD v2: 6-143792756-A-G
• gnomAD v3: 6-143471619-A-G
• gnomAD v4: 6-143471619-A-G
• MyVariant Identifiers: chr6:g.143792756A>G (hg19) ; chr6:g.143471619A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143471619A>G , CM000668.2:g.143471619A>G	GRCh38
NC_000006.11:g.143792756A>G , CM000668.1:g.143792756A>G	GRCh37
NC_000006.10:g.143834449A>G	NCBI36
NG_008459.1:g.25839A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.578+8A>G MANE Select	ENSP00000356563.4:n.578+8A>G
ENST00000367591.4:c.578+8A>G	ENSP00000356563.4:n.578+8A>G
ENST00000367592.5:c.446+8A>G	ENSP00000356564.1:n.446+8A>G
NM_003630.2:c.578+8A>G	NP_003621.1:n.578+8A>G
NM_003630.3:c.578+8A>G MANE Select	NP_003621.1:n.578+8A>G