Canonical Allele Identifier: CA625820374

Gene: PEX12

Linked Data

• dbSNP Id: rs1358724890
• gnomAD v2: 17-33903231-A-C
• gnomAD v4: 17-35576212-A-C
• MyVariant Identifiers: chr17:g.33903231A>C (hg19) ; chr17:g.35576212A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576212A>C , CM000679.2:g.35576212A>C	GRCh38
NC_000017.10:g.33903231A>C , CM000679.1:g.33903231A>C	GRCh37
NC_000017.9:g.30927344A>C	NCBI36
NG_008447.1:g.7426T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.681-31T>G MANE Select	ENSP00000225873.3:n.681-31T>G
ENST00000586663.2:c.681-31T>G	ENSP00000466894.2:n.681-31T>G
ENST00000225873.8:c.681-31T>G	ENSP00000225873.3:n.681-31T>G
ENST00000586663.1:c.681-31T>G	ENSP00000466894.1:n.681-31T>G
ENST00000613219.4:c.681-31T>G	ENSP00000482609.1:n.681-31T>G
NM_000286.2:c.681-31T>G	NP_000277.1:n.681-31T>G
NM_000286.3:c.681-31T>G MANE Select	NP_000277.1:n.681-31T>G