Canonical Allele Identifier: CA8504814

Gene: PEX12

Linked Data

• ClinVar Variation Id: 1346030
• ClinVar RCV Id: RCV002029803
• dbSNP Id: rs750097322
• ExAC: 17:33902935 C / G
• gnomAD v2: 17-33902935-C-G
• gnomAD v4: 17-35575916-C-G
• MyVariant Identifiers: chr17:g.33902935C>G (hg19) ; chr17:g.35575916C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35575916C>G , CM000679.2:g.35575916C>G	GRCh38
NC_000017.10:g.33902935C>G , CM000679.1:g.33902935C>G	GRCh37
NC_000017.9:g.30927048C>G	NCBI36
NG_008447.1:g.7722G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225873.9:c.946G>C MANE Select	ENSP00000225873.3:p.Val316Leu
ENST00000586663.2:c.946G>C	ENSP00000466894.2:p.Val316Leu
ENST00000225873.8:c.946G>C	ENSP00000225873.3:p.Val316Leu
ENST00000586663.1:c.946G>C	ENSP00000466894.1:p.Val316Leu
ENST00000613219.4:c.946G>C	ENSP00000482609.1:p.Val316Leu
NM_000286.2:c.946G>C	NP_000277.1:p.Val316Leu
NM_000286.3:c.946G>C MANE Select	NP_000277.1:p.Val316Leu