Canonical Allele Identifier: CA5959709

Gene: PEX16

Linked Data

• dbSNP Id: rs747635330
• ExAC: 11:45931778 C / T
• gnomAD v2: 11-45931778-C-T
• gnomAD v4: 11-45910227-C-T
• MyVariant Identifiers: chr11:g.45931778C>T (hg19) ; chr11:g.45910227C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910227C>T , CM000673.2:g.45910227C>T	GRCh38
NC_000011.9:g.45931778C>T , CM000673.1:g.45931778C>T	GRCh37
NC_000011.8:g.45888354C>T	NCBI36
NG_008460.1:g.12897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*27G>A MANE Select	ENSP00000368024.5:n.*27G>A
ENST00000241041.7:c.953-50G>A	ENSP00000241041.3:n.953-50G>A
ENST00000378750.9:c.*27G>A	ENSP00000368024.5:n.*27G>A
ENST00000523721.2:n.268G>A
ENST00000532681.5:c.*27G>A	ENSP00000434654.1:n.*27G>A
NM_004813.2:c.*27G>A	NP_004804.1:n.*27G>A
NM_057174.2:c.953-50G>A	NP_476515.1:n.953-50G>A
XM_011520474.1:c.*27G>A	XP_011518776.1:n.*27G>A
NM_004813.3:c.*27G>A	NP_004804.1:n.*27G>A
NM_004813.4:c.*27G>A MANE Select	NP_004804.2:n.*27G>A
NM_057174.3:c.953-50G>A	NP_476515.2:n.953-50G>A