Canonical Allele Identifier: CA241511

Gene: PEX3

Linked Data

• ClinVar Variation Id: 195197
• ClinVar RCV Id: RCV000175752 ; RCV000304969
• dbSNP Id: rs41285015
• ExAC: 6:143780313 A / G
• gnomAD v2: 6-143780313-A-G
• gnomAD v3: 6-143459176-A-G
• gnomAD v4: 6-143459176-A-G
• MyVariant Identifiers: chr6:g.143780313A>G (hg19) ; chr6:g.143459176A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143459176A>G , CM000668.2:g.143459176A>G	GRCh38
NC_000006.11:g.143780313A>G , CM000668.1:g.143780313A>G	GRCh37
NC_000006.10:g.143822006A>G	NCBI36
NG_008459.1:g.13396A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.165A>G MANE Select	ENSP00000356563.4:p.Gln55=
ENST00000367591.4:c.165A>G	ENSP00000356563.4:p.Gln55=
ENST00000367592.5:c.74-3740A>G	ENSP00000356564.1:n.74-3740A>G
NM_003630.2:c.165A>G	NP_003621.1:p.Gln55=
NM_003630.3:c.165A>G MANE Select	NP_003621.1:p.Gln55=