Canonical Allele Identifier: CA346944567
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259174T>A (hg19) chr2:g.61032039T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032039T>A , CM000664.2:g.61032039T>A GRCh38
NC_000002.11:g.61259174T>A , CM000664.1:g.61259174T>A GRCh37
NC_000002.10:g.61112678T>A NCBI36
NG_008665.1:g.19363T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.713T>A MANE Select ENSP00000295030.4:p.Leu238Ter
ENST00000295030.5:c.713T>A ENSP00000295030.4:p.Leu238Ter
NM_002618.3:c.713T>A NP_002609.1:p.Leu238Ter
XM_011532904.1:c.596T>A XP_011531206.1:p.Leu199Ter
NM_002618.4:c.713T>A MANE Select NP_002609.1:p.Leu238Ter
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