Canonical Allele Identifier: CA1624312758
Gene: PEX6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969784G= , CM000668.2:g.42969784G= GRCh38
NC_000006.11:g.42937522G= , CM000668.1:g.42937522G= GRCh37
NC_000006.10:g.43045500G= NCBI36
NG_008370.1:g.14460C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1251C= MANE Select ENSP00000303511.8:p.Ser417=
ENST00000244546.4:c.1251C= ENSP00000244546.4:p.Ser417=
ENST00000304611.12:c.1251C= ENSP00000303511.8:p.Ser417=
NM_000287.3:c.1251C= NP_000278.3:p.Ser417=
NM_001316313.1:c.987C= NP_001303242.1:p.Ser329=
NR_133009.1:n.1344C=
XM_011514661.1:c.1167C= XP_011512963.1:p.Ser389=
XR_926246.1:n.1344C=
XM_011514661.2:c.1167C= XP_011512963.1:p.Ser389=
XR_001743466.2:n.2325C=
NM_000287.4:c.1251C= MANE Select NP_000278.3:p.Ser417=
NM_001316313.2:c.987C= NP_001303242.1:p.Ser329=
NR_133009.2:n.1282C=