Canonical Allele Identifier: CA513184386
Gene: PEX26 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.18561289G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18078523G>C , CM000684.2:g.18078523G>C GRCh38
NC_000022.10:g.18561289G>C , CM000684.1:g.18561289G>C GRCh37
NC_000022.9:g.16941289G>C NCBI36
NG_008339.1:g.5604G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399744.8:c.147G>C MANE Select ENSP00000382648.4:p.Leu49=
ENST00000474897.6:c.147G>C ENSP00000434235.2:p.Leu49=
ENST00000329627.11:c.147G>C ENSP00000331106.5:p.Leu49=
ENST00000399744.7:c.147G>C ENSP00000382648.3:p.Leu49=
ENST00000428061.2:c.147G>C ENSP00000412441.2:p.Leu49=
ENST00000474897.5:c.147G>C ENSP00000434235.1:p.Leu49=
ENST00000610387.4:c.147G>C ENSP00000482091.1:p.Leu49=
NM_001127649.2:c.147G>C NP_001121121.1:p.Leu49=
NM_001199319.1:c.147G>C NP_001186248.1:p.Leu49=
NM_017929.5:c.147G>C NP_060399.1:p.Leu49=
NM_001127649.3:c.147G>C MANE Select NP_001121121.1:p.Leu49=
NM_001199319.2:c.147G>C NP_001186248.1:p.Leu49=
NM_017929.6:c.147G>C NP_060399.1:p.Leu49=