Canonical Allele Identifier: CA2680366304
Gene: ENPP1 HGNC NCBI

Linked Data

gnomAD v4: 6-131851046-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851046C>G , CM000668.2:g.131851046C>G GRCh38
NC_000006.11:g.132172186C>G , CM000668.1:g.132172186C>G GRCh37
NC_000006.10:g.132213879C>G NCBI36
NG_008206.1:g.48031C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.431-96C>G MANE Select ENSP00000498074.1:n.431-96C>G
ENST00000650147.1:c.109-96C>G
ENST00000650437.1:c.108+940C>G
ENST00000360971.6:c.431-96C>G ENSP00000354238.2:n.431-96C>G
ENST00000486853.1:n.451-96C>G
ENST00000513998.5:c.431-96C>G ENSP00000422424.1:n.431-96C>G
NM_006208.2:c.431-96C>G NP_006199.2:n.431-96C>G
NM_006208.3:c.431-96C>G MANE Select NP_006199.2:n.431-96C>G
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