Canonical Allele Identifier: CA346944511
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259164C>G (hg19) chr2:g.61032029C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032029C>G , CM000664.2:g.61032029C>G GRCh38
NC_000002.11:g.61259164C>G , CM000664.1:g.61259164C>G GRCh37
NC_000002.10:g.61112668C>G NCBI36
NG_008665.1:g.19353C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.703C>G MANE Select ENSP00000295030.4:p.Pro235Ala
ENST00000295030.5:c.703C>G ENSP00000295030.4:p.Pro235Ala
NM_002618.3:c.703C>G NP_002609.1:p.Pro235Ala
XM_011532904.1:c.586C>G XP_011531206.1:p.Pro196Ala
NM_002618.4:c.703C>G MANE Select NP_002609.1:p.Pro235Ala
Search 100 bp 5'
Search 100 bp 3'