Canonical Allele Identifier: CA2613277369

Gene: PEX16

Linked Data

• gnomAD v4: 11-45909982-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45909982C>A , CM000673.2:g.45909982C>A	GRCh38
NC_000011.9:g.45931533C>A , CM000673.1:g.45931533C>A	GRCh37
NC_000011.8:g.45888109C>A	NCBI36
NG_008460.1:g.13142G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*272G>T MANE Select	ENSP00000368024.5:n.*272G>T
ENST00000241041.7:c.*107G>T	ENSP00000241041.3:n.*107G>T
NM_004813.2:c.*272G>T	NP_004804.1:n.*272G>T
NM_057174.2:c.*107G>T	NP_476515.1:n.*107G>T
NM_004813.3:c.*272G>T	NP_004804.1:n.*272G>T
NM_004813.4:c.*272G>T MANE Select	NP_004804.2:n.*272G>T
NM_057174.3:c.*107G>T	NP_476515.2:n.*107G>T