Canonical Allele Identifier: CA364150853

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965256C>G , CM000668.2:g.42965256C>G	GRCh38
NC_000006.11:g.42932994C>G , CM000668.1:g.42932994C>G	GRCh37
NC_000006.10:g.43040972C>G	NCBI36
NG_008370.1:g.18988G>C
NG_008396.1:g.9495C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2584G>C MANE Select	NP_000278.3:p.Gly862Arg
ENST00000304611.13:c.2584G>C MANE Select	ENSP00000303511.8:p.Gly862Arg
NM_000287.3:c.2584G>C	NP_000278.3:p.Gly862Arg
NM_001316313.1:c.2320G>C	NP_001303242.1:p.Gly774Arg
NM_001316313.2:c.2320G>C	NP_001303242.1:p.Gly774Arg
NR_133009.1:n.2430G>C
NR_133009.2:n.2368G>C
ENST00000244546.4:c.2337G>C	ENSP00000244546.4:n.2337G>C
ENST00000304611.12:c.2584G>C	ENSP00000303511.8:p.Gly862Arg
XM_011514661.1:c.2500G>C	XP_011512963.1:p.Gly834Arg
XM_011514661.2:c.2500G>C	XP_011512963.1:p.Gly834Arg
XR_001743466.2:n.3546G>C