Canonical Allele Identifier: CA426411832
Gene: PEX13 HGNC NCBI

Linked Data

ClinVar Variation Id: 2699904
ClinVar RCV Id: RCV003536212
MyVariant Identifiers: chr2:g.61259166A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032031A>T , CM000664.2:g.61032031A>T GRCh38
NC_000002.11:g.61259166A>T , CM000664.1:g.61259166A>T GRCh37
NC_000002.10:g.61112670A>T NCBI36
NG_008665.1:g.19355A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.705A>T MANE Select ENSP00000295030.4:p.Pro235=
ENST00000295030.5:c.705A>T ENSP00000295030.4:p.Pro235=
NM_002618.3:c.705A>T NP_002609.1:p.Pro235=
XM_011532904.1:c.588A>T XP_011531206.1:p.Pro196=
NM_002618.4:c.705A>T MANE Select NP_002609.1:p.Pro235=
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Search 100 bp 3'