Canonical Allele Identifier: CA346944562
Gene: PEX13 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040656
ClinVar RCV Id: RCV001344334
dbSNP Id: rs1680460970
gnomAD v4: 2-61032038-T-G
MyVariant Identifiers: chr2:g.61259173T>G (hg19) chr2:g.61032038T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032038T>G , CM000664.2:g.61032038T>G GRCh38
NC_000002.11:g.61259173T>G , CM000664.1:g.61259173T>G GRCh37
NC_000002.10:g.61112677T>G NCBI36
NG_008665.1:g.19362T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.712T>G MANE Select ENSP00000295030.4:p.Leu238Val
ENST00000295030.5:c.712T>G ENSP00000295030.4:p.Leu238Val
NM_002618.3:c.712T>G NP_002609.1:p.Leu238Val
XM_011532904.1:c.595T>G XP_011531206.1:p.Leu199Val
NM_002618.4:c.712T>G MANE Select NP_002609.1:p.Leu238Val
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