Canonical Allele Identifier: CA346944594
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259177T>A (hg19) chr2:g.61032042T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032042T>A , CM000664.2:g.61032042T>A GRCh38
NC_000002.11:g.61259177T>A , CM000664.1:g.61259177T>A GRCh37
NC_000002.10:g.61112681T>A NCBI36
NG_008665.1:g.19366T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.716T>A MANE Select ENSP00000295030.4:p.Phe239Tyr
ENST00000295030.5:c.716T>A ENSP00000295030.4:p.Phe239Tyr
NM_002618.3:c.716T>A NP_002609.1:p.Phe239Tyr
XM_011532904.1:c.599T>A XP_011531206.1:p.Phe200Tyr
NM_002618.4:c.716T>A MANE Select NP_002609.1:p.Phe239Tyr
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