Canonical Allele Identifier: CA399137607
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs187526749
gnomAD v3: 17-35576183-T-C
gnomAD v4: 17-35576183-T-C
MyVariant Identifiers: chr17:g.33903202T>C (hg19) chr17:g.35576183T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

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