Canonical Allele Identifier: CA8504854

Gene: PEX12

Linked Data

• ClinVar Variation Id: 287347
• ClinVar RCV Id: RCV000287024 ; RCV001083308 ; RCV004549596
• dbSNP Id: rs139417458
• ExAC: 17:33903159 C / A
• gnomAD v2: 17-33903159-C-A
• gnomAD v3: 17-35576140-C-A
• gnomAD v4: 17-35576140-C-A
• MyVariant Identifiers: chr17:g.33903159C>A (hg19) ; chr17:g.35576140C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576140C>A , CM000679.2:g.35576140C>A	GRCh38
NC_000017.10:g.33903159C>A , CM000679.1:g.33903159C>A	GRCh37
NC_000017.9:g.30927272C>A	NCBI36
NG_008447.1:g.7498G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.722G>T MANE Select	ENSP00000225873.3:p.Gly241Val
ENST00000586663.2:c.722G>T	ENSP00000466894.2:p.Gly241Val
ENST00000225873.8:c.722G>T	ENSP00000225873.3:p.Gly241Val
ENST00000586663.1:c.722G>T	ENSP00000466894.1:p.Gly241Val
ENST00000613219.4:c.722G>T	ENSP00000482609.1:p.Gly241Val
NM_000286.2:c.722G>T	NP_000277.1:p.Gly241Val
NM_000286.3:c.722G>T MANE Select	NP_000277.1:p.Gly241Val