Canonical Allele Identifier: CA2613278701

Gene: PEX16

Linked Data

• gnomAD v4: 11-45910371-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910371A>G , CM000673.2:g.45910371A>G	GRCh38
NC_000011.9:g.45931922A>G , CM000673.1:g.45931922A>G	GRCh37
NC_000011.8:g.45888498A>G	NCBI36
NG_008460.1:g.12753T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.953-59T>C MANE Select	ENSP00000368024.5:n.953-59T>C
ENST00000241041.7:c.953-194T>C	ENSP00000241041.3:n.953-194T>C
ENST00000378750.9:c.953-59T>C	ENSP00000368024.5:n.953-59T>C
ENST00000523721.2:n.183-59T>C
ENST00000532681.5:c.668-59T>C	ENSP00000434654.1:n.668-59T>C
NM_004813.2:c.953-59T>C	NP_004804.1:n.953-59T>C
NM_057174.2:c.953-194T>C	NP_476515.1:n.953-194T>C
XM_011520474.1:c.830-59T>C	XP_011518776.1:n.830-59T>C
NM_004813.3:c.953-59T>C	NP_004804.1:n.953-59T>C
NM_004813.4:c.953-59T>C MANE Select	NP_004804.2:n.953-59T>C
NM_057174.3:c.953-194T>C	NP_476515.2:n.953-194T>C