Canonical Allele Identifier: CA5959717

Gene: PEX16

Linked Data

• ClinVar Variation Id: 286888
• ClinVar RCV Id: RCV000313548 ; RCV000383174 ; RCV001087855
• dbSNP Id: rs144897515
• ExAC: 11:45931814 A / G
• gnomAD v2: 11-45931814-A-G
• gnomAD v3: 11-45910263-A-G
• gnomAD v4: 11-45910263-A-G
• MyVariant Identifiers: chr11:g.45931814A>G (hg19) ; chr11:g.45910263A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910263A>G , CM000673.2:g.45910263A>G	GRCh38
NC_000011.9:g.45931814A>G , CM000673.1:g.45931814A>G	GRCh37
NC_000011.8:g.45888390A>G	NCBI36
NG_008460.1:g.12861T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.1002T>C MANE Select	ENSP00000368024.5:p.Ser334=
ENST00000241041.7:c.953-86T>C	ENSP00000241041.3:n.953-86T>C
ENST00000378750.9:c.1002T>C	ENSP00000368024.5:p.Ser334=
ENST00000523721.2:n.232T>C
ENST00000532681.5:c.717T>C	ENSP00000434654.1:p.Ser239=
NM_004813.2:c.1002T>C	NP_004804.1:p.Ser334=
NM_057174.2:c.953-86T>C	NP_476515.1:n.953-86T>C
XM_011520474.1:c.879T>C	XP_011518776.1:p.Ser293=
NM_004813.3:c.1002T>C	NP_004804.1:p.Ser334=
NM_004813.4:c.1002T>C MANE Select	NP_004804.2:p.Ser334=
NM_057174.3:c.953-86T>C	NP_476515.2:n.953-86T>C