Canonical Allele Identifier: CA599028321

Gene: PEX16

Linked Data

• dbSNP Id: rs1192087745
• gnomAD v2: 11-45931847-G-A
• gnomAD v4: 11-45910296-G-A
• MyVariant Identifiers: chr11:g.45931847G>A (hg19) ; chr11:g.45910296G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910296G>A , CM000673.2:g.45910296G>A	GRCh38
NC_000011.9:g.45931847G>A , CM000673.1:g.45931847G>A	GRCh37
NC_000011.8:g.45888423G>A	NCBI36
NG_008460.1:g.12828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.969C>T MANE Select	ENSP00000368024.5:p.Tyr323=
ENST00000241041.7:c.953-119C>T	ENSP00000241041.3:n.953-119C>T
ENST00000378750.9:c.969C>T	ENSP00000368024.5:p.Tyr323=
ENST00000523721.2:n.199C>T
ENST00000532681.5:c.684C>T	ENSP00000434654.1:p.Tyr228=
NM_004813.2:c.969C>T	NP_004804.1:p.Tyr323=
NM_057174.2:c.953-119C>T	NP_476515.1:n.953-119C>T
XM_011520474.1:c.846C>T	XP_011518776.1:p.Tyr282=
NM_004813.3:c.969C>T	NP_004804.1:p.Tyr323=
NM_004813.4:c.969C>T MANE Select	NP_004804.2:p.Tyr323=
NM_057174.3:c.953-119C>T	NP_476515.2:n.953-119C>T