Canonical Allele Identifier: CA1968698095

Gene: PEX16

Linked Data

• dbSNP Id: rs2086758395
• gnomAD v4: 11-45910004-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910004G>A , CM000673.2:g.45910004G>A	GRCh38
NC_000011.9:g.45931555G>A , CM000673.1:g.45931555G>A	GRCh37
NC_000011.8:g.45888131G>A	NCBI36
NG_008460.1:g.13120C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*250C>T MANE Select	ENSP00000368024.5:n.*250C>T
ENST00000241041.7:c.*85C>T	ENSP00000241041.3:n.*85C>T
NM_004813.2:c.*250C>T	NP_004804.1:n.*250C>T
NM_057174.2:c.*85C>T	NP_476515.1:n.*85C>T
NM_004813.3:c.*250C>T	NP_004804.1:n.*250C>T
NM_004813.4:c.*250C>T MANE Select	NP_004804.2:n.*250C>T
NM_057174.3:c.*85C>T	NP_476515.2:n.*85C>T