Canonical Allele Identifier: CA8504804

Gene: PEX12

Linked Data

• ClinVar Variation Id: 451464
• ClinVar RCV Id: RCV000520537 ; RCV000674819 ; RCV001378080
• dbSNP Id: rs760739894
• ExAC: 17:33902872 G / A
• gnomAD v2: 17-33902872-G-A
• gnomAD v3: 17-35575853-G-A
• gnomAD v4: 17-35575853-G-A
• MyVariant Identifiers: chr17:g.33902872G>A (hg19) ; chr17:g.35575853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35575853G>A , CM000679.2:g.35575853G>A	GRCh38
NC_000017.10:g.33902872G>A , CM000679.1:g.33902872G>A	GRCh37
NC_000017.9:g.30926985G>A	NCBI36
NG_008447.1:g.7785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.1009C>T MANE Select	ENSP00000225873.3:p.Gln337Ter
ENST00000586663.2:c.1009C>T	ENSP00000466894.2:p.Gln337Ter
ENST00000225873.8:c.1009C>T	ENSP00000225873.3:p.Gln337Ter
ENST00000586663.1:c.1009C>T	ENSP00000466894.1:p.Gln337Ter
ENST00000613219.4:c.1009C>T	ENSP00000482609.1:p.Gln337Ter
NM_000286.2:c.1009C>T	NP_000277.1:p.Gln337Ter
NM_000286.3:c.1009C>T MANE Select	NP_000277.1:p.Gln337Ter