Canonical Allele Identifier: CA1255168226
Gene: PEX13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032040G= , CM000664.2:g.61032040G= GRCh38
NC_000002.11:g.61259175G= , CM000664.1:g.61259175G= GRCh37
NC_000002.10:g.61112679G= NCBI36
NG_008665.1:g.19364G=

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.714G= MANE Select ENSP00000295030.4:p.Leu238=
ENST00000295030.5:c.714G= ENSP00000295030.4:p.Leu238=
NM_002618.3:c.714G= NP_002609.1:p.Leu238=
XM_011532904.1:c.597G= XP_011531206.1:p.Leu199=
NM_002618.4:c.714G= MANE Select NP_002609.1:p.Leu238=