Canonical Allele Identifier: CA1624312952
Gene: PEX6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969892A= , CM000668.2:g.42969892A= GRCh38
NC_000006.11:g.42937630A= , CM000668.1:g.42937630A= GRCh37
NC_000006.10:g.43045608A= NCBI36
NG_008370.1:g.14352T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1226T= MANE Select ENSP00000303511.8:p.Leu409=
ENST00000244546.4:c.1226T= ENSP00000244546.4:p.Leu409=
ENST00000304611.12:c.1226T= ENSP00000303511.8:p.Leu409=
NM_000287.3:c.1226T= NP_000278.3:p.Leu409=
NM_001316313.1:c.962T= NP_001303242.1:p.Leu321=
NR_133009.1:n.1319T=
XM_011514661.1:c.1142T= XP_011512963.1:p.Leu381=
XR_926246.1:n.1319T=
XM_011514661.2:c.1142T= XP_011512963.1:p.Leu381=
XR_001743466.2:n.2300T=
NM_000287.4:c.1226T= MANE Select NP_000278.3:p.Leu409=
NM_001316313.2:c.962T= NP_001303242.1:p.Leu321=
NR_133009.2:n.1257T=