Canonical Allele Identifier: CA426411732
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259076T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031941T>C , CM000664.2:g.61031941T>C GRCh38
NC_000002.11:g.61259076T>C , CM000664.1:g.61259076T>C GRCh37
NC_000002.10:g.61112580T>C NCBI36
NG_008665.1:g.19265T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.615T>C MANE Select ENSP00000295030.4:p.Ser205=
ENST00000295030.5:c.615T>C ENSP00000295030.4:p.Ser205=
NM_002618.3:c.615T>C NP_002609.1:p.Ser205=
XM_011532904.1:c.498T>C XP_011531206.1:p.Ser166=
NM_002618.4:c.615T>C MANE Select NP_002609.1:p.Ser205=