Canonical Allele Identifier: CA399137567
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs2072784140

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576166T>C , CM000679.2:g.35576166T>C GRCh38
NC_000017.10:g.33903185T>C , CM000679.1:g.33903185T>C GRCh37
NC_000017.9:g.30927298T>C NCBI36
NG_008447.1:g.7472A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.696A>G MANE Select ENSP00000225873.3:p.Ile232Met
ENST00000586663.2:c.696A>G ENSP00000466894.2:p.Ile232Met
ENST00000225873.8:c.696A>G ENSP00000225873.3:p.Ile232Met
ENST00000586663.1:c.696A>G ENSP00000466894.1:p.Ile232Met
ENST00000613219.4:c.696A>G ENSP00000482609.1:p.Ile232Met
NM_000286.2:c.696A>G NP_000277.1:p.Ile232Met
NM_000286.3:c.696A>G MANE Select NP_000277.1:p.Ile232Met