Canonical Allele Identifier: CA8504865
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs781186474
ExAC: 17:33903247 G / A
gnomAD v2: 17-33903247-G-A
gnomAD v4: 17-35576228-G-A
MyVariant Identifiers: chr17:g.33903247G>A (hg19) chr17:g.35576228G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576228G>A , CM000679.2:g.35576228G>A GRCh38
NC_000017.10:g.33903247G>A , CM000679.1:g.33903247G>A GRCh37
NC_000017.9:g.30927360G>A NCBI36
NG_008447.1:g.7410C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.681-47C>T MANE Select ENSP00000225873.3:n.681-47C>T
ENST00000586663.2:c.681-47C>T ENSP00000466894.2:n.681-47C>T
ENST00000225873.8:c.681-47C>T ENSP00000225873.3:n.681-47C>T
ENST00000586663.1:c.681-47C>T ENSP00000466894.1:n.681-47C>T
ENST00000613219.4:c.681-47C>T ENSP00000482609.1:n.681-47C>T
NM_000286.2:c.681-47C>T NP_000277.1:n.681-47C>T
NM_000286.3:c.681-47C>T MANE Select NP_000277.1:n.681-47C>T
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