Canonical Allele Identifier: CA346944540
Gene: PEX13 HGNC NCBI

Linked Data

gnomAD v4: 2-61032034-A-G
MyVariant Identifiers: chr2:g.61259169A>G (hg19) chr2:g.61032034A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032034A>G , CM000664.2:g.61032034A>G GRCh38
NC_000002.11:g.61259169A>G , CM000664.1:g.61259169A>G GRCh37
NC_000002.10:g.61112673A>G NCBI36
NG_008665.1:g.19358A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.708A>G MANE Select ENSP00000295030.4:p.Ile236Met
ENST00000295030.5:c.708A>G ENSP00000295030.4:p.Ile236Met
NM_002618.3:c.708A>G NP_002609.1:p.Ile236Met
XM_011532904.1:c.591A>G XP_011531206.1:p.Ile197Met
NM_002618.4:c.708A>G MANE Select NP_002609.1:p.Ile236Met
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