Canonical Allele Identifier: CA2680597056

Gene: PEX3

Linked Data

• gnomAD v4: 6-143485304-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143485304C>T , CM000668.2:g.143485304C>T	GRCh38
NC_000006.11:g.143806441C>T , CM000668.1:g.143806441C>T	GRCh37
NC_000006.10:g.143848134C>T	NCBI36
NG_008459.1:g.39524C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.1038+56C>T MANE Select	ENSP00000356563.4:n.1038+56C>T
ENST00000367591.4:c.1038+56C>T	ENSP00000356563.4:n.1038+56C>T
ENST00000585848.1:n.177+56C>T
NM_003630.2:c.1038+56C>T	NP_003621.1:n.1038+56C>T
NM_003630.3:c.1038+56C>T MANE Select	NP_003621.1:n.1038+56C>T