Canonical Allele Identifier: CA5959719

Gene: PEX16

Linked Data

• ClinVar Variation Id: 289740
• ClinVar RCV Id: RCV000270091 ; RCV001087447 ; RCV003930178
• dbSNP Id: rs146657010
• ExAC: 11:45931817 G / A
• gnomAD v2: 11-45931817-G-A
• gnomAD v3: 11-45910266-G-A
• gnomAD v4: 11-45910266-G-A
• MyVariant Identifiers: chr11:g.45931817G>A (hg19) ; chr11:g.45910266G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910266G>A , CM000673.2:g.45910266G>A	GRCh38
NC_000011.9:g.45931817G>A , CM000673.1:g.45931817G>A	GRCh37
NC_000011.8:g.45888393G>A	NCBI36
NG_008460.1:g.12858C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.999C>T MANE Select	ENSP00000368024.5:p.Tyr333=
ENST00000241041.7:c.953-89C>T	ENSP00000241041.3:n.953-89C>T
ENST00000378750.9:c.999C>T	ENSP00000368024.5:p.Tyr333=
ENST00000523721.2:n.229C>T
ENST00000532681.5:c.714C>T	ENSP00000434654.1:p.Tyr238=
NM_004813.2:c.999C>T	NP_004804.1:p.Tyr333=
NM_057174.2:c.953-89C>T	NP_476515.1:n.953-89C>T
XM_011520474.1:c.876C>T	XP_011518776.1:p.Tyr292=
NM_004813.3:c.999C>T	NP_004804.1:p.Tyr333=
NM_004813.4:c.999C>T MANE Select	NP_004804.2:p.Tyr333=
NM_057174.3:c.953-89C>T	NP_476515.2:n.953-89C>T