Canonical Allele Identifier: CA119009
Gene: PEX13 HGNC NCBI

Linked Data

ClinVar Variation Id: 7703
ClinVar RCV Id: RCV000008142
dbSNP Id: rs104893661
MyVariant Identifiers: chr2:g.61259163G>A (hg19) chr2:g.61032028G>A (hg38)
PubMed: PMID:10332040
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032028G>A , CM000664.2:g.61032028G>A GRCh38
NC_000002.11:g.61259163G>A , CM000664.1:g.61259163G>A GRCh37
NC_000002.10:g.61112667G>A NCBI36
NG_008665.1:g.19352G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.702G>A MANE Select ENSP00000295030.4:p.Trp234Ter
ENST00000295030.5:c.702G>A ENSP00000295030.4:p.Trp234Ter
NM_002618.3:c.702G>A NP_002609.1:p.Trp234Ter
XM_011532904.1:c.585G>A XP_011531206.1:p.Trp195Ter
NM_002618.4:c.702G>A MANE Select NP_002609.1:p.Trp234Ter
Search 100 bp 5'
Search 100 bp 3'