Canonical Allele Identifier: CA399137536

Gene: PEX12

Linked Data

• dbSNP Id: rs1331678040
• gnomAD v4: 17-35576151-C-G
• MyVariant Identifiers: chr17:g.33903170C>G (hg19) ; chr17:g.35576151C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576151C>G , CM000679.2:g.35576151C>G	GRCh38
NC_000017.10:g.33903170C>G , CM000679.1:g.33903170C>G	GRCh37
NC_000017.9:g.30927283C>G	NCBI36
NG_008447.1:g.7487G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.711G>C MANE Select	ENSP00000225873.3:p.Lys237Asn
ENST00000586663.2:c.711G>C	ENSP00000466894.2:p.Lys237Asn
ENST00000225873.8:c.711G>C	ENSP00000225873.3:p.Lys237Asn
ENST00000586663.1:c.711G>C	ENSP00000466894.1:p.Lys237Asn
ENST00000613219.4:c.711G>C	ENSP00000482609.1:p.Lys237Asn
NM_000286.2:c.711G>C	NP_000277.1:p.Lys237Asn
NM_000286.3:c.711G>C MANE Select	NP_000277.1:p.Lys237Asn