Canonical Allele Identifier: CA1624307904
Community Standard Title: NM_000287.4(PEX6):c.2578C= (p.Arg860=)
Gene: PEX6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42965262G= , CM000668.2:g.42965262G= GRCh38
NC_000006.11:g.42933000G= , CM000668.1:g.42933000G= GRCh37
NC_000006.10:g.43040978G= NCBI36
NG_008370.1:g.18982C=
NG_008396.1:g.9501G=

Transcript Alleles

HGVS Amino-acid Change
NM_000287.4:c.2578C= MANE Select NP_000278.3:p.Arg860=
ENST00000304611.13:c.2578C= MANE Select ENSP00000303511.8:p.Arg860=
NM_000287.3:c.2578C= NP_000278.3:p.Arg860=
NM_001316313.1:c.2314C= NP_001303242.1:p.Arg772=
NM_001316313.2:c.2314C= NP_001303242.1:p.Arg772=
NR_133009.1:n.2424C=
NR_133009.2:n.2362C=
ENST00000244546.4:c.2331C= ENSP00000244546.4:n.2331C=
ENST00000304611.12:c.2578C= ENSP00000303511.8:p.Arg860=
XM_011514661.1:c.2494C= XP_011512963.1:p.Arg832=
XM_011514661.2:c.2494C= XP_011512963.1:p.Arg832=
XR_001743466.2:n.3540C=