Canonical Allele Identifier: CA5959795

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45913841G>C , CM000673.2:g.45913841G>C	GRCh38
NC_000011.9:g.45935392G>C , CM000673.1:g.45935392G>C	GRCh37
NC_000011.8:g.45891968G>C	NCBI36
NG_008460.1:g.9283C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.865C>G MANE Select	NP_004804.2:p.Pro289Ala
ENST00000378750.10:c.865C>G MANE Select	ENSP00000368024.5:p.Pro289Ala
NM_004813.2:c.865C>G	NP_004804.1:p.Pro289Ala
NM_004813.3:c.865C>G	NP_004804.1:p.Pro289Ala
NM_057174.2:c.865C>G	NP_476515.1:p.Pro289Ala
NM_057174.3:c.865C>G	NP_476515.2:p.Pro289Ala
ENST00000241041.7:c.865C>G	ENSP00000241041.3:p.Pro289Ala
ENST00000378750.9:c.865C>G	ENSP00000368024.5:p.Pro289Ala
ENST00000532681.5:c.580C>G	ENSP00000434654.1:p.Pro194Ala
XM_011520474.1:c.742C>G	XP_011518776.1:p.Pro248Ala