Canonical Allele Identifier: CA365887719

Gene: PEX3

Linked Data

• MyVariant Identifiers: chr6:g.143806377T>G (hg19) ; chr6:g.143485240T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143485240T>G , CM000668.2:g.143485240T>G	GRCh38
NC_000006.11:g.143806377T>G , CM000668.1:g.143806377T>G	GRCh37
NC_000006.10:g.143848070T>G	NCBI36
NG_008459.1:g.39460T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.1030T>G MANE Select	ENSP00000356563.4:p.Phe344Val
ENST00000367591.4:c.1030T>G	ENSP00000356563.4:p.Phe344Val
ENST00000585848.1:n.169T>G
NM_003630.2:c.1030T>G	NP_003621.1:p.Phe344Val
NM_003630.3:c.1030T>G MANE Select	NP_003621.1:p.Phe344Val