Canonical Allele Identifier: CA426411844
Gene: PEX13 HGNC NCBI

Linked Data

ClinVar Variation Id: 2821455
ClinVar RCV Id: RCV003650955
dbSNP Id: rs1221275951
gnomAD v2: 2-61259175-G-A
gnomAD v4: 2-61032040-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032040G>A , CM000664.2:g.61032040G>A GRCh38
NC_000002.11:g.61259175G>A , CM000664.1:g.61259175G>A GRCh37
NC_000002.10:g.61112679G>A NCBI36
NG_008665.1:g.19364G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.714G>A MANE Select ENSP00000295030.4:p.Leu238=
ENST00000295030.5:c.714G>A ENSP00000295030.4:p.Leu238=
NM_002618.3:c.714G>A NP_002609.1:p.Leu238=
XM_011532904.1:c.597G>A XP_011531206.1:p.Leu199=
NM_002618.4:c.714G>A MANE Select NP_002609.1:p.Leu238=