Canonical Allele Identifier: CA364160336

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42975031A>T , CM000668.2:g.42975031A>T	GRCh38
NC_000006.11:g.42942769A>T , CM000668.1:g.42942769A>T	GRCh37
NC_000006.10:g.43050747A>T	NCBI36
NG_008370.1:g.9213T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.890T>A MANE Select	NP_000278.3:p.Leu297Ter
ENST00000304611.13:c.890T>A MANE Select	ENSP00000303511.8:p.Leu297Ter
NM_000287.3:c.890T>A	NP_000278.3:p.Leu297Ter
NM_001316313.1:c.626T>A	NP_001303242.1:p.Leu209Ter
NM_001316313.2:c.626T>A	NP_001303242.1:p.Leu209Ter
NR_133009.1:n.983T>A
NR_133009.2:n.921T>A
ENST00000244546.4:c.890T>A	ENSP00000244546.4:p.Leu297Ter
ENST00000304611.12:c.890T>A	ENSP00000303511.8:p.Leu297Ter
XM_011514661.1:c.890T>A	XP_011512963.1:p.Leu297Ter
XM_011514661.2:c.890T>A	XP_011512963.1:p.Leu297Ter
XR_001743466.2:n.1964T>A
XR_926246.1:n.983T>A