Canonical Allele Identifier: CA48342593
Gene: PEX13 HGNC NCBI

Linked Data

ClinVar Variation Id: 2111411
ClinVar RCV Id: RCV003023947
dbSNP Id: rs1029828967
gnomAD v2: 2-61259166-A-G
gnomAD v3: 2-61032031-A-G
gnomAD v4: 2-61032031-A-G
MyVariant Identifiers: chr2:g.61259166A>G (hg19) chr2:g.61032031A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032031A>G , CM000664.2:g.61032031A>G GRCh38
NC_000002.11:g.61259166A>G , CM000664.1:g.61259166A>G GRCh37
NC_000002.10:g.61112670A>G NCBI36
NG_008665.1:g.19355A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.705A>G MANE Select ENSP00000295030.4:p.Pro235=
ENST00000295030.5:c.705A>G ENSP00000295030.4:p.Pro235=
NM_002618.3:c.705A>G NP_002609.1:p.Pro235=
XM_011532904.1:c.588A>G XP_011531206.1:p.Pro196=
NM_002618.4:c.705A>G MANE Select NP_002609.1:p.Pro235=
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