Canonical Allele Identifier: CA1664283183
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1782455430
gnomAD v4: 6-131890526-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890526C>A , CM000668.2:g.131890526C>A GRCh38
NC_000006.11:g.132211666C>A , CM000668.1:g.132211666C>A GRCh37
NC_000006.10:g.132253359C>A NCBI36
NG_008206.1:g.87511C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1224C>A
ENST00000647893.1:c.*15C>A MANE Select ENSP00000498074.1:n.*15C>A
ENST00000360971.6:c.*15C>A ENSP00000354238.2:n.*15C>A
ENST00000513998.5:c.*1630C>A ENSP00000422424.1:n.*1630C>A
NM_006208.2:c.*15C>A NP_006199.2:n.*15C>A
XM_011535896.1:c.*15C>A XP_011534198.1:n.*15C>A
NM_006208.3:c.*15C>A MANE Select NP_006199.2:n.*15C>A
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