Canonical Allele Identifier: CA450366730

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978686C>G , CM000668.2:g.42978686C>G	GRCh38
NC_000006.11:g.42946424C>G , CM000668.1:g.42946424C>G	GRCh37
NC_000006.10:g.43054402C>G	NCBI36
NG_008370.1:g.5558G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.465G>C MANE Select	NP_000278.3:p.Leu155=
ENST00000304611.13:c.465G>C MANE Select	ENSP00000303511.8:p.Leu155=
NM_000287.3:c.465G>C	NP_000278.3:p.Leu155=
NM_001316313.1:c.465G>C	NP_001303242.1:p.Leu155=
NM_001316313.2:c.465G>C	NP_001303242.1:p.Leu155=
NR_133009.1:n.558G>C
NR_133009.2:n.496G>C
ENST00000244546.4:c.465G>C	ENSP00000244546.4:p.Leu155=
ENST00000304611.12:c.465G>C	ENSP00000303511.8:p.Leu155=
XM_011514661.1:c.465G>C	XP_011512963.1:p.Leu155=
XM_011514661.2:c.465G>C	XP_011512963.1:p.Leu155=
XR_001743466.2:n.1539G>C
XR_926246.1:n.558G>C