Canonical Allele Identifier: CA8504857

Gene: PEX12

Linked Data

• ClinVar Variation Id: 497605
• ClinVar RCV Id: RCV000597979 ; RCV000668976 ; RCV000781709 ; RCV004553310
• dbSNP Id: rs187526749
• ExAC: 17:33903202 T / G
• gnomAD v2: 17-33903202-T-G
• gnomAD v3: 17-35576183-T-G
• gnomAD v4: 17-35576183-T-G
• MyVariant Identifiers: chr17:g.33903202T>G (hg19) ; chr17:g.35576183T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576183T>G , CM000679.2:g.35576183T>G	GRCh38
NC_000017.10:g.33903202T>G , CM000679.1:g.33903202T>G	GRCh37
NC_000017.9:g.30927315T>G	NCBI36
NG_008447.1:g.7455A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.681-2A>C MANE Select	ENSP00000225873.3:n.681-2A>C
ENST00000586663.2:c.681-2A>C	ENSP00000466894.2:n.681-2A>C
ENST00000225873.8:c.681-2A>C	ENSP00000225873.3:n.681-2A>C
ENST00000586663.1:c.681-2A>C	ENSP00000466894.1:n.681-2A>C
ENST00000613219.4:c.681-2A>C	ENSP00000482609.1:n.681-2A>C
NM_000286.2:c.681-2A>C	NP_000277.1:n.681-2A>C
NM_000286.3:c.681-2A>C MANE Select	NP_000277.1:n.681-2A>C