Canonical Allele Identifier: CA450366103
Gene: PEX6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42937513T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969775T>A , CM000668.2:g.42969775T>A GRCh38
NC_000006.11:g.42937513T>A , CM000668.1:g.42937513T>A GRCh37
NC_000006.10:g.43045491T>A NCBI36
NG_008370.1:g.14469A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1260A>T MANE Select ENSP00000303511.8:p.Pro420=
ENST00000244546.4:c.1260A>T ENSP00000244546.4:p.Pro420=
ENST00000304611.12:c.1260A>T ENSP00000303511.8:p.Pro420=
NM_000287.3:c.1260A>T NP_000278.3:p.Pro420=
NM_001316313.1:c.996A>T NP_001303242.1:p.Pro332=
NR_133009.1:n.1353A>T
XM_011514661.1:c.1176A>T XP_011512963.1:p.Pro392=
XR_926246.1:n.1353A>T
XM_011514661.2:c.1176A>T XP_011512963.1:p.Pro392=
XR_001743466.2:n.2334A>T
NM_000287.4:c.1260A>T MANE Select NP_000278.3:p.Pro420=
NM_001316313.2:c.996A>T NP_001303242.1:p.Pro332=
NR_133009.2:n.1291A>T