Canonical Allele Identifier: CA346944512
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259165C>A (hg19) chr2:g.61032030C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032030C>A , CM000664.2:g.61032030C>A GRCh38
NC_000002.11:g.61259165C>A , CM000664.1:g.61259165C>A GRCh37
NC_000002.10:g.61112669C>A NCBI36
NG_008665.1:g.19354C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.704C>A MANE Select ENSP00000295030.4:p.Pro235Gln
ENST00000295030.5:c.704C>A ENSP00000295030.4:p.Pro235Gln
NM_002618.3:c.704C>A NP_002609.1:p.Pro235Gln
XM_011532904.1:c.587C>A XP_011531206.1:p.Pro196Gln
NM_002618.4:c.704C>A MANE Select NP_002609.1:p.Pro235Gln
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