Canonical Allele Identifier: CA2578742880
Gene: ENPP1 HGNC NCBI

Linked Data

gnomAD v4: 6-131861513-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131861513C>A , CM000668.2:g.131861513C>A GRCh38
NC_000006.11:g.132182653C>A , CM000668.1:g.132182653C>A GRCh37
NC_000006.10:g.132224346C>A NCBI36
NG_008206.1:g.58498C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647893.1:c.916-82C>A MANE Select ENSP00000498074.1:n.916-82C>A
ENST00000650147.1:c.533-82C>A
ENST00000650437.1:c.407-82C>A
ENST00000360971.6:c.916-82C>A ENSP00000354238.2:n.916-82C>A
ENST00000513998.5:c.916-82C>A ENSP00000422424.1:n.916-82C>A
NM_006208.2:c.916-82C>A NP_006199.2:n.916-82C>A
NM_006208.3:c.916-82C>A MANE Select NP_006199.2:n.916-82C>A
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