Canonical Allele Identifier: CA2680366452
Gene: ENPP1 HGNC NCBI

Linked Data

gnomAD v4: 6-131851488-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851488A>G , CM000668.2:g.131851488A>G GRCh38
NC_000006.11:g.132172628A>G , CM000668.1:g.132172628A>G GRCh37
NC_000006.10:g.132214321A>G NCBI36
NG_008206.1:g.48473A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+221A>G MANE Select ENSP00000498074.1:n.556+221A>G
ENST00000650147.1:c.234+221A>G
ENST00000650437.1:c.108+1382A>G
ENST00000360971.6:c.556+221A>G ENSP00000354238.2:n.556+221A>G
ENST00000513998.5:c.556+221A>G ENSP00000422424.1:n.556+221A>G
NM_006208.2:c.556+221A>G NP_006199.2:n.556+221A>G
NM_006208.3:c.556+221A>G MANE Select NP_006199.2:n.556+221A>G
Search 100 bp 5'
Search 100 bp 3'