Canonical Allele Identifier: CA3811568

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978389T>C , CM000668.2:g.42978389T>C	GRCh38
NC_000006.11:g.42946127T>C , CM000668.1:g.42946127T>C	GRCh37
NC_000006.10:g.43054105T>C	NCBI36
NG_008370.1:g.5855A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.762A>G MANE Select	NP_000278.3:p.Arg254=
ENST00000304611.13:c.762A>G MANE Select	ENSP00000303511.8:p.Arg254=
NM_000287.3:c.762A>G	NP_000278.3:p.Arg254=
NM_001316313.1:c.618+144A>G	NP_001303242.1:n.618+144A>G
NM_001316313.2:c.618+144A>G	NP_001303242.1:n.618+144A>G
NR_133009.1:n.855A>G
NR_133009.2:n.793A>G
ENST00000244546.4:c.762A>G	ENSP00000244546.4:p.Arg254=
ENST00000304611.12:c.762A>G	ENSP00000303511.8:p.Arg254=
XM_011514661.1:c.762A>G	XP_011512963.1:p.Arg254=
XM_011514661.2:c.762A>G	XP_011512963.1:p.Arg254=
XR_001743466.2:n.1836A>G
XR_926246.1:n.855A>G