Canonical Allele Identifier: CA399137459
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs2072783559

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576110A>T , CM000679.2:g.35576110A>T GRCh38
NC_000017.10:g.33903129A>T , CM000679.1:g.33903129A>T GRCh37
NC_000017.9:g.30927242A>T NCBI36
NG_008447.1:g.7528T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.752T>A MANE Select ENSP00000225873.3:p.Leu251His
ENST00000586663.2:c.752T>A ENSP00000466894.2:p.Leu251His
ENST00000225873.8:c.752T>A ENSP00000225873.3:p.Leu251His
ENST00000586663.1:c.752T>A ENSP00000466894.1:p.Leu251His
ENST00000613219.4:c.752T>A ENSP00000482609.1:p.Leu251His
NM_000286.2:c.752T>A NP_000277.1:p.Leu251His
NM_000286.3:c.752T>A MANE Select NP_000277.1:p.Leu251His