Canonical Allele Identifier: CA513184442
Gene: PEX26 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.18561301G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18078535G>C , CM000684.2:g.18078535G>C GRCh38
NC_000022.10:g.18561301G>C , CM000684.1:g.18561301G>C GRCh37
NC_000022.9:g.16941301G>C NCBI36
NG_008339.1:g.5616G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399744.8:c.159G>C MANE Select ENSP00000382648.4:p.Ala53=
ENST00000474897.6:c.159G>C ENSP00000434235.2:p.Ala53=
ENST00000329627.11:c.159G>C ENSP00000331106.5:p.Ala53=
ENST00000399744.7:c.159G>C ENSP00000382648.3:p.Ala53=
ENST00000428061.2:c.159G>C ENSP00000412441.2:p.Ala53=
ENST00000474897.5:c.159G>C ENSP00000434235.1:p.Ala53=
ENST00000610387.4:c.159G>C ENSP00000482091.1:p.Ala53=
NM_001127649.2:c.159G>C NP_001121121.1:p.Ala53=
NM_001199319.1:c.159G>C NP_001186248.1:p.Ala53=
NM_017929.5:c.159G>C NP_060399.1:p.Ala53=
NM_001127649.3:c.159G>C MANE Select NP_001121121.1:p.Ala53=
NM_001199319.2:c.159G>C NP_001186248.1:p.Ala53=
NM_017929.6:c.159G>C NP_060399.1:p.Ala53=