Canonical Allele Identifier: CA426411837
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259169A>C (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.708A>C MANE Select ENSP00000295030.4:p.Ile236=
ENST00000295030.5:c.708A>C ENSP00000295030.4:p.Ile236=
NM_002618.3:c.708A>C NP_002609.1:p.Ile236=
XM_011532904.1:c.591A>C XP_011531206.1:p.Ile197=
NM_002618.4:c.708A>C MANE Select NP_002609.1:p.Ile236=
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