Canonical Allele Identifier: CA5959730

Gene: PEX16

Linked Data

• dbSNP Id: rs748658687
• ExAC: 11:45931894 G / T
• gnomAD v2: 11-45931894-G-T
• gnomAD v4: 11-45910343-G-T
• MyVariant Identifiers: chr11:g.45931894G>T (hg19) ; chr11:g.45910343G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910343G>T , CM000673.2:g.45910343G>T	GRCh38
NC_000011.9:g.45931894G>T , CM000673.1:g.45931894G>T	GRCh37
NC_000011.8:g.45888470G>T	NCBI36
NG_008460.1:g.12781C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.953-31C>A MANE Select	ENSP00000368024.5:n.953-31C>A
ENST00000241041.7:c.953-166C>A	ENSP00000241041.3:n.953-166C>A
ENST00000378750.9:c.953-31C>A	ENSP00000368024.5:n.953-31C>A
ENST00000523721.2:n.183-31C>A
ENST00000532681.5:c.668-31C>A	ENSP00000434654.1:n.668-31C>A
NM_004813.2:c.953-31C>A	NP_004804.1:n.953-31C>A
NM_057174.2:c.953-166C>A	NP_476515.1:n.953-166C>A
XM_011520474.1:c.830-31C>A	XP_011518776.1:n.830-31C>A
NM_004813.3:c.953-31C>A	NP_004804.1:n.953-31C>A
NM_004813.4:c.953-31C>A MANE Select	NP_004804.2:n.953-31C>A
NM_057174.3:c.953-166C>A	NP_476515.2:n.953-166C>A