Canonical Allele Identifier: CA5959681

Gene: PEX16

Linked Data

• dbSNP Id: rs749581838
• ExAC: 11:45931670 C / T
• gnomAD v2: 11-45931670-C-T
• gnomAD v3: 11-45910119-C-T
• gnomAD v4: 11-45910119-C-T
• MyVariant Identifiers: chr11:g.45931670C>T (hg19) ; chr11:g.45910119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910119C>T , CM000673.2:g.45910119C>T	GRCh38
NC_000011.9:g.45931670C>T , CM000673.1:g.45931670C>T	GRCh37
NC_000011.8:g.45888246C>T	NCBI36
NG_008460.1:g.13005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*135G>A MANE Select	ENSP00000368024.5:n.*135G>A
ENST00000241041.7:c.1011G>A	ENSP00000241041.3:p.Ser337=
NM_004813.2:c.*135G>A	NP_004804.1:n.*135G>A
NM_057174.2:c.1011G>A	NP_476515.1:p.Ser337=
NM_004813.3:c.*135G>A	NP_004804.1:n.*135G>A
NM_004813.4:c.*135G>A MANE Select	NP_004804.2:n.*135G>A
NM_057174.3:c.1011G>A	NP_476515.2:p.Ser337=