Canonical Allele Identifier: CA1664283179
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1782455352
gnomAD v4: 6-131890523-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890523T>A , CM000668.2:g.131890523T>A GRCh38
NC_000006.11:g.132211663T>A , CM000668.1:g.132211663T>A GRCh37
NC_000006.10:g.132253356T>A NCBI36
NG_008206.1:g.87508T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1221T>A
ENST00000647893.1:c.*12T>A MANE Select ENSP00000498074.1:n.*12T>A
ENST00000360971.6:c.*12T>A ENSP00000354238.2:n.*12T>A
ENST00000513998.5:c.*1627T>A ENSP00000422424.1:n.*1627T>A
NM_006208.2:c.*12T>A NP_006199.2:n.*12T>A
XM_011535896.1:c.*12T>A XP_011534198.1:n.*12T>A
NM_006208.3:c.*12T>A MANE Select NP_006199.2:n.*12T>A
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