Canonical Allele Identifier: CA399138507
Gene: PEX12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35577455C>T , CM000679.2:g.35577455C>T GRCh38
NC_000017.10:g.33904474C>T , CM000679.1:g.33904474C>T GRCh37
NC_000017.9:g.30928587C>T NCBI36
NG_008447.1:g.6183G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225873.9:c.263G>A MANE Select ENSP00000225873.3:p.Gly88Asp
ENST00000586663.2:c.263G>A ENSP00000466894.2:p.Gly88Asp
ENST00000225873.8:c.263G>A ENSP00000225873.3:p.Gly88Asp
ENST00000585380.1:c.263G>A ENSP00000466280.1:p.Gly88Asp
ENST00000586663.1:c.263G>A ENSP00000466894.1:p.Gly88Asp
ENST00000613219.4:c.263G>A ENSP00000482609.1:p.Gly88Asp
NM_000286.2:c.263G>A NP_000277.1:p.Gly88Asp
NM_000286.3:c.263G>A MANE Select NP_000277.1:p.Gly88Asp