Canonical Allele Identifier: CA3810987

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965255C>A , CM000668.2:g.42965255C>A	GRCh38
NC_000006.11:g.42932993C>A , CM000668.1:g.42932993C>A	GRCh37
NC_000006.10:g.43040971C>A	NCBI36
NG_008370.1:g.18989G>T
NG_008396.1:g.9494C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2585G>T MANE Select	NP_000278.3:p.Gly862Val
ENST00000304611.13:c.2585G>T MANE Select	ENSP00000303511.8:p.Gly862Val
NM_000287.3:c.2585G>T	NP_000278.3:p.Gly862Val
NM_001316313.1:c.2321G>T	NP_001303242.1:p.Gly774Val
NM_001316313.2:c.2321G>T	NP_001303242.1:p.Gly774Val
NR_133009.1:n.2431G>T
NR_133009.2:n.2369G>T
ENST00000244546.4:c.2338G>T	ENSP00000244546.4:n.2338G>T
ENST00000304611.12:c.2585G>T	ENSP00000303511.8:p.Gly862Val
XM_011514661.1:c.2501G>T	XP_011512963.1:p.Gly834Val
XM_011514661.2:c.2501G>T	XP_011512963.1:p.Gly834Val
XR_001743466.2:n.3547G>T