Canonical Allele Identifier: CA346944060
Gene: PEX13 HGNC NCBI

Linked Data

gnomAD v4: 2-61031942-G-A
MyVariant Identifiers: chr2:g.61259077G>A (hg19) chr2:g.61031942G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031942G>A , CM000664.2:g.61031942G>A GRCh38
NC_000002.11:g.61259077G>A , CM000664.1:g.61259077G>A GRCh37
NC_000002.10:g.61112581G>A NCBI36
NG_008665.1:g.19266G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.616G>A MANE Select ENSP00000295030.4:p.Glu206Lys
ENST00000295030.5:c.616G>A ENSP00000295030.4:p.Glu206Lys
NM_002618.3:c.616G>A NP_002609.1:p.Glu206Lys
XM_011532904.1:c.499G>A XP_011531206.1:p.Glu167Lys
NM_002618.4:c.616G>A MANE Select NP_002609.1:p.Glu206Lys
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