Canonical Allele Identifier: CA1673440
Gene: PEX13 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.61048716G>A
GRCh37 chr2:g.61275851G>A
gnomAD v2:
2:61275851 G / A
gnomAD v3:
2:61048716 G / A
gnomAD v4:
chr2-61048716-G-A
Joint Max Group AF 0.00005435 (AMR)
Genomes Max Group AF 0.00002263 (AMR)
Exomes Max Group AF 0.00004358 (AMR)
ClinVar RCV:
RCV000396571
ClinVar Variation:
336671
dbSNP:
371789976
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61048716G>A , CM000664.2:g.61048716G>A GRCh38
NC_000002.11:g.61275851G>A , CM000664.1:g.61275851G>A GRCh37
NC_000002.10:g.61129355G>A NCBI36
NG_008665.1:g.36040G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295030.6:c.1158G>A MANE Select ENSP00000295030.4:p.Lys386=
ENST00000295030.5:c.1158G>A ENSP00000295030.4:p.Lys386=
NM_002618.3:c.1158G>A NP_002609.1:p.Lys386=
XM_011532904.1:c.1041G>A XP_011531206.1:p.Lys347=
NM_002618.4:c.1158G>A MANE Select NP_002609.1:p.Lys386=
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