Canonical Allele Identifier: CA450366242

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42979045G>A , CM000668.2:g.42979045G>A	GRCh38
NC_000006.11:g.42946783G>A , CM000668.1:g.42946783G>A	GRCh37
NC_000006.10:g.43054761G>A	NCBI36
NG_008370.1:g.5199C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.106C>T MANE Select	NP_000278.3:p.Leu36=
ENST00000304611.13:c.106C>T MANE Select	ENSP00000303511.8:p.Leu36=
NM_000287.3:c.106C>T	NP_000278.3:p.Leu36=
NM_001316313.1:c.106C>T	NP_001303242.1:p.Leu36=
NM_001316313.2:c.106C>T	NP_001303242.1:p.Leu36=
NR_133009.1:n.199C>T
NR_133009.2:n.137C>T
ENST00000244546.4:c.106C>T	ENSP00000244546.4:p.Leu36=
ENST00000304611.12:c.106C>T	ENSP00000303511.8:p.Leu36=
XM_011514661.1:c.106C>T	XP_011512963.1:p.Leu36=
XM_011514661.2:c.106C>T	XP_011512963.1:p.Leu36=
XR_001743466.2:n.1180C>T
XR_926246.1:n.199C>T