Canonical Allele Identifier: CA346944522
Gene: PEX13 HGNC NCBI

Linked Data

ClinVar Variation Id: 1389382
ClinVar RCV Id: RCV001889223
dbSNP Id: rs1292217685
gnomAD v4: 2-61032032-A-G
MyVariant Identifiers: chr2:g.61259167A>G (hg19) chr2:g.61032032A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032032A>G , CM000664.2:g.61032032A>G GRCh38
NC_000002.11:g.61259167A>G , CM000664.1:g.61259167A>G GRCh37
NC_000002.10:g.61112671A>G NCBI36
NG_008665.1:g.19356A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.706A>G MANE Select ENSP00000295030.4:p.Ile236Val
ENST00000295030.5:c.706A>G ENSP00000295030.4:p.Ile236Val
NM_002618.3:c.706A>G NP_002609.1:p.Ile236Val
XM_011532904.1:c.589A>G XP_011531206.1:p.Ile197Val
NM_002618.4:c.706A>G MANE Select NP_002609.1:p.Ile236Val
Search 100 bp 5'
Search 100 bp 3'