Canonical Allele Identifier: CA365887313

Gene: PEX3

Linked Data

• MyVariant Identifiers: chr6:g.143806309C>T (hg19) ; chr6:g.143485172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143485172C>T , CM000668.2:g.143485172C>T	GRCh38
NC_000006.11:g.143806309C>T , CM000668.1:g.143806309C>T	GRCh37
NC_000006.10:g.143848002C>T	NCBI36
NG_008459.1:g.39392C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.962C>T MANE Select	ENSP00000356563.4:p.Pro321Leu
ENST00000367591.4:c.962C>T	ENSP00000356563.4:p.Pro321Leu
ENST00000585848.1:n.101C>T
NM_003630.2:c.962C>T	NP_003621.1:p.Pro321Leu
NM_003630.3:c.962C>T MANE Select	NP_003621.1:p.Pro321Leu