Canonical Allele Identifier: CA8504860

Gene: PEX12

Linked Data

• dbSNP Id: rs200463087
• ExAC: 17:33903232 G / C
• gnomAD v2: 17-33903232-G-C
• gnomAD v3: 17-35576213-G-C
• gnomAD v4: 17-35576213-G-C
• MyVariant Identifiers: chr17:g.33903232G>C (hg19) ; chr17:g.35576213G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576213G>C , CM000679.2:g.35576213G>C	GRCh38
NC_000017.10:g.33903232G>C , CM000679.1:g.33903232G>C	GRCh37
NC_000017.9:g.30927345G>C	NCBI36
NG_008447.1:g.7425C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.681-32C>G MANE Select	ENSP00000225873.3:n.681-32C>G
ENST00000586663.2:c.681-32C>G	ENSP00000466894.2:n.681-32C>G
ENST00000225873.8:c.681-32C>G	ENSP00000225873.3:n.681-32C>G
ENST00000586663.1:c.681-32C>G	ENSP00000466894.1:n.681-32C>G
ENST00000613219.4:c.681-32C>G	ENSP00000482609.1:n.681-32C>G
NM_000286.2:c.681-32C>G	NP_000277.1:n.681-32C>G
NM_000286.3:c.681-32C>G MANE Select	NP_000277.1:n.681-32C>G