Canonical Allele Identifier: CA365887618

Gene: PEX3

Linked Data

• MyVariant Identifiers: chr6:g.143806363A>T (hg19) ; chr6:g.143485226A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143485226A>T , CM000668.2:g.143485226A>T	GRCh38
NC_000006.11:g.143806363A>T , CM000668.1:g.143806363A>T	GRCh37
NC_000006.10:g.143848056A>T	NCBI36
NG_008459.1:g.39446A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.1016A>T MANE Select	ENSP00000356563.4:p.Glu339Val
ENST00000367591.4:c.1016A>T	ENSP00000356563.4:p.Glu339Val
ENST00000585848.1:n.155A>T
NM_003630.2:c.1016A>T	NP_003621.1:p.Glu339Val
NM_003630.3:c.1016A>T MANE Select	NP_003621.1:p.Glu339Val