Canonical Allele Identifier: CA346944054
Gene: PEX13 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.614C>T MANE Select ENSP00000295030.4:p.Ser205Phe
ENST00000295030.5:c.614C>T ENSP00000295030.4:p.Ser205Phe
NM_002618.3:c.614C>T NP_002609.1:p.Ser205Phe
XM_011532904.1:c.497C>T XP_011531206.1:p.Ser166Phe
NM_002618.4:c.614C>T MANE Select NP_002609.1:p.Ser205Phe
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