Canonical Allele Identifier: CA473860693

Gene: PEX16

Linked Data

• MyVariant Identifiers: chr11:g.45931652T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910101T>A , CM000673.2:g.45910101T>A	GRCh38
NC_000011.9:g.45931652T>A , CM000673.1:g.45931652T>A	GRCh37
NC_000011.8:g.45888228T>A	NCBI36
NG_008460.1:g.13023A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*153A>T MANE Select	ENSP00000368024.5:n.*153A>T
ENST00000241041.7:c.1029A>T	ENSP00000241041.3:p.Pro343=
NM_004813.2:c.*153A>T	NP_004804.1:n.*153A>T
NM_057174.2:c.1029A>T	NP_476515.1:p.Pro343=
NM_004813.3:c.*153A>T	NP_004804.1:n.*153A>T
NM_004813.4:c.*153A>T MANE Select	NP_004804.2:n.*153A>T
NM_057174.3:c.1029A>T	NP_476515.2:p.Pro343=