Canonical Allele Identifier: CA1673324
Gene: PEX13 HGNC NCBI

Linked Data

ClinVar Variation Id: 594431
ClinVar RCV Id: RCV000729710 RCV001341843
dbSNP Id: rs752948360
ExAC: 2:61259072 G / A
gnomAD v2: 2-61259072-G-A
gnomAD v3: 2-61031937-G-A
gnomAD v4: 2-61031937-G-A
MyVariant Identifiers: chr2:g.61259072G>A (hg19) chr2:g.61031937G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031937G>A , CM000664.2:g.61031937G>A GRCh38
NC_000002.11:g.61259072G>A , CM000664.1:g.61259072G>A GRCh37
NC_000002.10:g.61112576G>A NCBI36
NG_008665.1:g.19261G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.611G>A MANE Select ENSP00000295030.4:p.Gly204Asp
ENST00000295030.5:c.611G>A ENSP00000295030.4:p.Gly204Asp
NM_002618.3:c.611G>A NP_002609.1:p.Gly204Asp
XM_011532904.1:c.494G>A XP_011531206.1:p.Gly165Asp
NM_002618.4:c.611G>A MANE Select NP_002609.1:p.Gly204Asp
Search 100 bp 5'
Search 100 bp 3'