Canonical Allele Identifier: CA426411717
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259064A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031929A>G , CM000664.2:g.61031929A>G GRCh38
NC_000002.11:g.61259064A>G , CM000664.1:g.61259064A>G GRCh37
NC_000002.10:g.61112568A>G NCBI36
NG_008665.1:g.19253A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.603A>G MANE Select ENSP00000295030.4:p.Leu201=
ENST00000295030.5:c.603A>G ENSP00000295030.4:p.Leu201=
NM_002618.3:c.603A>G NP_002609.1:p.Leu201=
XM_011532904.1:c.486A>G XP_011531206.1:p.Leu162=
NM_002618.4:c.603A>G MANE Select NP_002609.1:p.Leu201=