Canonical Allele Identifier: CA138222397

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965718G>A , CM000668.2:g.42965718G>A	GRCh38
NC_000006.11:g.42933456G>A , CM000668.1:g.42933456G>A	GRCh37
NC_000006.10:g.43041434G>A	NCBI36
NG_008370.1:g.18526C>T
NG_008396.1:g.9957G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2434C>T MANE Select	NP_000278.3:p.Arg812Trp
ENST00000304611.13:c.2434C>T MANE Select	ENSP00000303511.8:p.Arg812Trp
NM_000287.3:c.2434C>T	NP_000278.3:p.Arg812Trp
NM_001316313.1:c.2170C>T	NP_001303242.1:p.Arg724Trp
NM_001316313.2:c.2170C>T	NP_001303242.1:p.Arg724Trp
NR_133009.1:n.2280C>T
NR_133009.2:n.2218C>T
ENST00000244546.4:c.2187C>T	ENSP00000244546.4:p.Ala729=
ENST00000304611.12:c.2434C>T	ENSP00000303511.8:p.Arg812Trp
XM_011514661.1:c.2350C>T	XP_011512963.1:p.Arg784Trp
XM_011514661.2:c.2350C>T	XP_011512963.1:p.Arg784Trp
XR_001743466.2:n.3396C>T