Canonical Allele Identifier: CA450253216

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965140C>A , CM000668.2:g.42965140C>A	GRCh38
NC_000006.11:g.42932878C>A , CM000668.1:g.42932878C>A	GRCh37
NC_000006.10:g.43040856C>A	NCBI36
NG_008370.1:g.19104G>T
NG_008396.1:g.9379C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2601G>T MANE Select	NP_000278.3:p.Leu867=
ENST00000304611.13:c.2601G>T MANE Select	ENSP00000303511.8:p.Leu867=
NM_000287.3:c.2601G>T	NP_000278.3:p.Leu867=
NM_001316313.1:c.2337G>T	NP_001303242.1:p.Leu779=
NM_001316313.2:c.2337G>T	NP_001303242.1:p.Leu779=
NR_133009.1:n.2447G>T
NR_133009.2:n.2385G>T
ENST00000244546.4:c.2354G>T	ENSP00000244546.4:n.2354G>T
ENST00000304611.12:c.2601G>T	ENSP00000303511.8:p.Leu867=
XM_011514661.1:c.2517G>T	XP_011512963.1:p.Leu839=
XM_011514661.2:c.2517G>T	XP_011512963.1:p.Leu839=
XR_001743466.2:n.3563G>T