Canonical Allele Identifier: CA346944584
Gene: PEX13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032041T>G , CM000664.2:g.61032041T>G GRCh38
NC_000002.11:g.61259176T>G , CM000664.1:g.61259176T>G GRCh37
NC_000002.10:g.61112680T>G NCBI36
NG_008665.1:g.19365T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.715T>G MANE Select ENSP00000295030.4:p.Phe239Val
ENST00000295030.5:c.715T>G ENSP00000295030.4:p.Phe239Val
NM_002618.3:c.715T>G NP_002609.1:p.Phe239Val
XM_011532904.1:c.598T>G XP_011531206.1:p.Phe200Val
NM_002618.4:c.715T>G MANE Select NP_002609.1:p.Phe239Val