Canonical Allele Identifier: CA1624313011
Community Standard Title: NM_000287.4(PEX6):c.1202T= (p.Leu401=)
Gene: PEX6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969916A= , CM000668.2:g.42969916A= GRCh38
NC_000006.11:g.42937654A= , CM000668.1:g.42937654A= GRCh37
NC_000006.10:g.43045632A= NCBI36
NG_008370.1:g.14328T=

Transcript Alleles

HGVS Amino-acid Change
NM_000287.4:c.1202T= MANE Select NP_000278.3:p.Leu401=
ENST00000304611.13:c.1202T= MANE Select ENSP00000303511.8:p.Leu401=
NM_000287.3:c.1202T= NP_000278.3:p.Leu401=
NM_001316313.1:c.938T= NP_001303242.1:p.Leu313=
NM_001316313.2:c.938T= NP_001303242.1:p.Leu313=
NR_133009.1:n.1295T=
NR_133009.2:n.1233T=
ENST00000244546.4:c.1202T= ENSP00000244546.4:p.Leu401=
ENST00000304611.12:c.1202T= ENSP00000303511.8:p.Leu401=
XM_011514661.1:c.1118T= XP_011512963.1:p.Leu373=
XM_011514661.2:c.1118T= XP_011512963.1:p.Leu373=
XR_001743466.2:n.2276T=
XR_926246.1:n.1295T=