Canonical Allele Identifier: CA346944051
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259075C>A (hg19) chr2:g.61031940C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031940C>A , CM000664.2:g.61031940C>A GRCh38
NC_000002.11:g.61259075C>A , CM000664.1:g.61259075C>A GRCh37
NC_000002.10:g.61112579C>A NCBI36
NG_008665.1:g.19264C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.614C>A MANE Select ENSP00000295030.4:p.Ser205Tyr
ENST00000295030.5:c.614C>A ENSP00000295030.4:p.Ser205Tyr
NM_002618.3:c.614C>A NP_002609.1:p.Ser205Tyr
XM_011532904.1:c.497C>A XP_011531206.1:p.Ser166Tyr
NM_002618.4:c.614C>A MANE Select NP_002609.1:p.Ser205Tyr
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