Canonical Allele Identifier: CA399137538
Gene: PEX12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576152T>C , CM000679.2:g.35576152T>C GRCh38
NC_000017.10:g.33903171T>C , CM000679.1:g.33903171T>C GRCh37
NC_000017.9:g.30927284T>C NCBI36
NG_008447.1:g.7486A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.710A>G MANE Select ENSP00000225873.3:p.Lys237Arg
ENST00000586663.2:c.710A>G ENSP00000466894.2:p.Lys237Arg
ENST00000225873.8:c.710A>G ENSP00000225873.3:p.Lys237Arg
ENST00000586663.1:c.710A>G ENSP00000466894.1:p.Lys237Arg
ENST00000613219.4:c.710A>G ENSP00000482609.1:p.Lys237Arg
NM_000286.2:c.710A>G NP_000277.1:p.Lys237Arg
NM_000286.3:c.710A>G MANE Select NP_000277.1:p.Lys237Arg