Canonical Allele Identifier: CA119011

Gene: PEX13

Linked Data

• ClinVar Variation Id: 7704
• ClinVar RCV Id: RCV000008143 ; RCV001851730 ; RCV002269257
• dbSNP Id: rs61752115
• gnomAD v2: 2-61275670-T-C
• gnomAD v4: 2-61048535-T-C
• MyVariant Identifiers: chr2:g.61275670T>C (hg19) ; chr2:g.61048535T>C (hg38)
• PubMed: PMID:9480815 ; PMID:10332040 ; PMID:10441568

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61048535T>C , CM000664.2:g.61048535T>C	GRCh38
NC_000002.11:g.61275670T>C , CM000664.1:g.61275670T>C	GRCh37
NC_000002.10:g.61129174T>C	NCBI36
NG_008665.1:g.35859T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295030.6:c.977T>C MANE Select	ENSP00000295030.4:p.Ile326Thr
ENST00000295030.5:c.977T>C	ENSP00000295030.4:p.Ile326Thr
NM_002618.3:c.977T>C	NP_002609.1:p.Ile326Thr
XM_011532904.1:c.860T>C	XP_011531206.1:p.Ile287Thr
NM_002618.4:c.977T>C MANE Select	NP_002609.1:p.Ile326Thr