Canonical Allele Identifier: CA450366121
Gene: PEX6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42937534A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969796A>T , CM000668.2:g.42969796A>T GRCh38
NC_000006.11:g.42937534A>T , CM000668.1:g.42937534A>T GRCh37
NC_000006.10:g.43045512A>T NCBI36
NG_008370.1:g.14448T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1239T>A MANE Select ENSP00000303511.8:p.Gly413=
ENST00000244546.4:c.1239T>A ENSP00000244546.4:p.Gly413=
ENST00000304611.12:c.1239T>A ENSP00000303511.8:p.Gly413=
NM_000287.3:c.1239T>A NP_000278.3:p.Gly413=
NM_001316313.1:c.975T>A NP_001303242.1:p.Gly325=
NR_133009.1:n.1332T>A
XM_011514661.1:c.1155T>A XP_011512963.1:p.Gly385=
XR_926246.1:n.1332T>A
XM_011514661.2:c.1155T>A XP_011512963.1:p.Gly385=
XR_001743466.2:n.2313T>A
NM_000287.4:c.1239T>A MANE Select NP_000278.3:p.Gly413=
NM_001316313.2:c.975T>A NP_001303242.1:p.Gly325=
NR_133009.2:n.1270T>A