Canonical Allele Identifier: CA1673337
Gene: PEX13 HGNC NCBI

Linked Data

ClinVar Variation Id: 1971477
ClinVar RCV Id: RCV002740767
dbSNP Id: rs766284169
ExAC: 2:61259177 T / C
gnomAD v2: 2-61259177-T-C
gnomAD v4: 2-61032042-T-C
MyVariant Identifiers: chr2:g.61259177T>C (hg19) chr2:g.61032042T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032042T>C , CM000664.2:g.61032042T>C GRCh38
NC_000002.11:g.61259177T>C , CM000664.1:g.61259177T>C GRCh37
NC_000002.10:g.61112681T>C NCBI36
NG_008665.1:g.19366T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.716T>C MANE Select ENSP00000295030.4:p.Phe239Ser
ENST00000295030.5:c.716T>C ENSP00000295030.4:p.Phe239Ser
NM_002618.3:c.716T>C NP_002609.1:p.Phe239Ser
XM_011532904.1:c.599T>C XP_011531206.1:p.Phe200Ser
NM_002618.4:c.716T>C MANE Select NP_002609.1:p.Phe239Ser
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