Canonical Allele Identifier: CA426411829
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259166A>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.705A>C MANE Select ENSP00000295030.4:p.Pro235=
ENST00000295030.5:c.705A>C ENSP00000295030.4:p.Pro235=
NM_002618.3:c.705A>C NP_002609.1:p.Pro235=
XM_011532904.1:c.588A>C XP_011531206.1:p.Pro196=
NM_002618.4:c.705A>C MANE Select NP_002609.1:p.Pro235=