Canonical Allele Identifier: CA8504791
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs763619631
ExAC: 17:33902757 T / G
gnomAD v2: 17-33902757-T-G
gnomAD v3: 17-35575738-T-G
gnomAD v4: 17-35575738-T-G
MyVariant Identifiers: chr17:g.33902757T>G (hg19) chr17:g.35575738T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575738T>G , CM000679.2:g.35575738T>G GRCh38
NC_000017.10:g.33902757T>G , CM000679.1:g.33902757T>G GRCh37
NC_000017.9:g.30926870T>G NCBI36
NG_008447.1:g.7900A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000225873.9:c.*44A>C MANE Select ENSP00000225873.3:n.*44A>C
ENST00000225873.8:c.*44A>C ENSP00000225873.3:n.*44A>C
ENST00000613219.4:c.*44A>C ENSP00000482609.1:n.*44A>C
NM_000286.2:c.*44A>C NP_000277.1:n.*44A>C
NM_000286.3:c.*44A>C MANE Select NP_000277.1:n.*44A>C
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