Canonical Allele Identifier: CA364156021
Gene: PEX6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969891C>A , CM000668.2:g.42969891C>A GRCh38
NC_000006.11:g.42937629C>A , CM000668.1:g.42937629C>A GRCh37
NC_000006.10:g.43045607C>A NCBI36
NG_008370.1:g.14353G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1227G>T MANE Select ENSP00000303511.8:p.Leu409Phe
ENST00000244546.4:c.1227G>T ENSP00000244546.4:p.Leu409Phe
ENST00000304611.12:c.1227G>T ENSP00000303511.8:p.Leu409Phe
NM_000287.3:c.1227G>T NP_000278.3:p.Leu409Phe
NM_001316313.1:c.963G>T NP_001303242.1:p.Leu321Phe
NR_133009.1:n.1320G>T
XM_011514661.1:c.1143G>T XP_011512963.1:p.Leu381Phe
XR_926246.1:n.1320G>T
XM_011514661.2:c.1143G>T XP_011512963.1:p.Leu381Phe
XR_001743466.2:n.2301G>T
NM_000287.4:c.1227G>T MANE Select NP_000278.3:p.Leu409Phe
NM_001316313.2:c.963G>T NP_001303242.1:p.Leu321Phe
NR_133009.2:n.1258G>T