Canonical Allele Identifier: CA3810989

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965261C>T , CM000668.2:g.42965261C>T	GRCh38
NC_000006.11:g.42932999C>T , CM000668.1:g.42932999C>T	GRCh37
NC_000006.10:g.43040977C>T	NCBI36
NG_008370.1:g.18983G>A
NG_008396.1:g.9500C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2579G>A MANE Select	NP_000278.3:p.Arg860Gln
ENST00000304611.13:c.2579G>A MANE Select	ENSP00000303511.8:p.Arg860Gln
NM_000287.3:c.2579G>A	NP_000278.3:p.Arg860Gln
NM_001316313.1:c.2315G>A	NP_001303242.1:p.Arg772Gln
NM_001316313.2:c.2315G>A	NP_001303242.1:p.Arg772Gln
NR_133009.1:n.2425G>A
NR_133009.2:n.2363G>A
ENST00000244546.4:c.2332G>A	ENSP00000244546.4:n.2332G>A
ENST00000304611.12:c.2579G>A	ENSP00000303511.8:p.Arg860Gln
XM_011514661.1:c.2495G>A	XP_011512963.1:p.Arg832Gln
XM_011514661.2:c.2495G>A	XP_011512963.1:p.Arg832Gln
XR_001743466.2:n.3541G>A