Canonical Allele Identifier: CA365887781

Gene: PEX3

Linked Data

• MyVariant Identifiers: chr6:g.143806387T>A (hg19) ; chr6:g.143485250T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143485250T>A , CM000668.2:g.143485250T>A	GRCh38
NC_000006.11:g.143806387T>A , CM000668.1:g.143806387T>A	GRCh37
NC_000006.10:g.143848080T>A	NCBI36
NG_008459.1:g.39470T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.1038+2T>A MANE Select	ENSP00000356563.4:n.1038+2T>A
ENST00000367591.4:c.1038+2T>A	ENSP00000356563.4:n.1038+2T>A
ENST00000585848.1:n.177+2T>A
NM_003630.2:c.1038+2T>A	NP_003621.1:n.1038+2T>A
NM_003630.3:c.1038+2T>A MANE Select	NP_003621.1:n.1038+2T>A