Canonical Allele Identifier: CA1624306903
Community Standard Title: NM_000287.4(PEX6):c.2816C= (p.Pro939=)
Gene: PEX6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42964462G= , CM000668.2:g.42964462G= GRCh38
NC_000006.11:g.42932200G= , CM000668.1:g.42932200G= GRCh37
NC_000006.10:g.43040178G= NCBI36
NG_008370.1:g.19782C=
NG_008396.1:g.8701G=

Transcript Alleles

HGVS Amino-acid Change
NM_000287.4:c.2816C= MANE Select NP_000278.3:p.Pro939=
ENST00000304611.13:c.2816C= MANE Select ENSP00000303511.8:p.Pro939=
NM_000287.3:c.2816C= NP_000278.3:p.Pro939=
NM_001316313.1:c.2552C= NP_001303242.1:p.Pro851=
NM_001316313.2:c.2552C= NP_001303242.1:p.Pro851=
NR_133009.1:n.2662C=
NR_133009.2:n.2600C=
ENST00000244546.4:c.2569C= ENSP00000244546.4:n.2569C=
ENST00000304611.12:c.2816C= ENSP00000303511.8:p.Pro939=
XM_011514661.1:c.2732C= XP_011512963.1:p.Pro911=
XM_011514661.2:c.2732C= XP_011512963.1:p.Pro911=
XR_001743466.2:n.3778C=