Canonical Allele Identifier: CA364155572
Gene: PEX6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969678G>T , CM000668.2:g.42969678G>T GRCh38
NC_000006.11:g.42937416G>T , CM000668.1:g.42937416G>T GRCh37
NC_000006.10:g.43045394G>T NCBI36
NG_008370.1:g.14566C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1357C>A MANE Select ENSP00000303511.8:p.Leu453Ile
ENST00000244546.4:c.1357C>A ENSP00000244546.4:p.Leu453Ile
ENST00000304611.12:c.1357C>A ENSP00000303511.8:p.Leu453Ile
NM_000287.3:c.1357C>A NP_000278.3:p.Leu453Ile
NM_001316313.1:c.1093C>A NP_001303242.1:p.Leu365Ile
NR_133009.1:n.1450C>A
XM_011514661.1:c.1273C>A XP_011512963.1:p.Leu425Ile
XR_926246.1:n.1450C>A
XM_011514661.2:c.1273C>A XP_011512963.1:p.Leu425Ile
XR_001743466.2:n.2431C>A
NM_000287.4:c.1357C>A MANE Select NP_000278.3:p.Leu453Ile
NM_001316313.2:c.1093C>A NP_001303242.1:p.Leu365Ile
NR_133009.2:n.1388C>A