Canonical Allele Identifier: CA346944015
Gene: PEX13 HGNC NCBI

Linked Data

ClinVar Variation Id: 940895
ClinVar RCV Id: RCV001210573
dbSNP Id: rs1336466520
gnomAD v2: 2-61259066-G-A
gnomAD v4: 2-61031931-G-A
MyVariant Identifiers: chr2:g.61259066G>A (hg19) chr2:g.61031931G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031931G>A , CM000664.2:g.61031931G>A GRCh38
NC_000002.11:g.61259066G>A , CM000664.1:g.61259066G>A GRCh37
NC_000002.10:g.61112570G>A NCBI36
NG_008665.1:g.19255G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.605G>A MANE Select ENSP00000295030.4:p.Arg202Lys
ENST00000295030.5:c.605G>A ENSP00000295030.4:p.Arg202Lys
NM_002618.3:c.605G>A NP_002609.1:p.Arg202Lys
XM_011532904.1:c.488G>A XP_011531206.1:p.Arg163Lys
NM_002618.4:c.605G>A MANE Select NP_002609.1:p.Arg202Lys
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