Canonical Allele Identifier: CA364150537

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965076T>C , CM000668.2:g.42965076T>C	GRCh38
NC_000006.11:g.42932814T>C , CM000668.1:g.42932814T>C	GRCh37
NC_000006.10:g.43040792T>C	NCBI36
NG_008370.1:g.19168A>G
NG_008396.1:g.9315T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2665A>G MANE Select	NP_000278.3:p.Lys889Glu
ENST00000304611.13:c.2665A>G MANE Select	ENSP00000303511.8:p.Lys889Glu
NM_000287.3:c.2665A>G	NP_000278.3:p.Lys889Glu
NM_001316313.1:c.2401A>G	NP_001303242.1:p.Lys801Glu
NM_001316313.2:c.2401A>G	NP_001303242.1:p.Lys801Glu
NR_133009.1:n.2511A>G
NR_133009.2:n.2449A>G
ENST00000244546.4:c.2418A>G	ENSP00000244546.4:n.2418A>G
ENST00000304611.12:c.2665A>G	ENSP00000303511.8:p.Lys889Glu
XM_011514661.1:c.2581A>G	XP_011512963.1:p.Lys861Glu
XM_011514661.2:c.2581A>G	XP_011512963.1:p.Lys861Glu
XR_001743466.2:n.3627A>G