Canonical Allele Identifier: CA1624312575
Gene: PEX6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969687T= , CM000668.2:g.42969687T= GRCh38
NC_000006.11:g.42937425T= , CM000668.1:g.42937425T= GRCh37
NC_000006.10:g.43045403T= NCBI36
NG_008370.1:g.14557A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1348A= MANE Select ENSP00000303511.8:p.Lys450=
ENST00000244546.4:c.1348A= ENSP00000244546.4:p.Lys450=
ENST00000304611.12:c.1348A= ENSP00000303511.8:p.Lys450=
NM_000287.3:c.1348A= NP_000278.3:p.Lys450=
NM_001316313.1:c.1084A= NP_001303242.1:p.Lys362=
NR_133009.1:n.1441A=
XM_011514661.1:c.1264A= XP_011512963.1:p.Lys422=
XR_926246.1:n.1441A=
XM_011514661.2:c.1264A= XP_011512963.1:p.Lys422=
XR_001743466.2:n.2422A=
NM_000287.4:c.1348A= MANE Select NP_000278.3:p.Lys450=
NM_001316313.2:c.1084A= NP_001303242.1:p.Lys362=
NR_133009.2:n.1379A=