Canonical Allele Identifier: CA2680371791
Gene: ENPP1 HGNC NCBI

Linked Data

gnomAD v4: 6-131890597-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890597C>A , CM000668.2:g.131890597C>A GRCh38
NC_000006.11:g.132211737C>A , CM000668.1:g.132211737C>A GRCh37
NC_000006.10:g.132253430C>A NCBI36
NG_008206.1:g.87582C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1295C>A
ENST00000647893.1:c.*86C>A MANE Select ENSP00000498074.1:n.*86C>A
ENST00000360971.6:c.*86C>A ENSP00000354238.2:n.*86C>A
ENST00000513998.5:c.*1701C>A ENSP00000422424.1:n.*1701C>A
NM_006208.2:c.*86C>A NP_006199.2:n.*86C>A
XM_011535896.1:c.*86C>A XP_011534198.1:n.*86C>A
NM_006208.3:c.*86C>A MANE Select NP_006199.2:n.*86C>A
Search 100 bp 5'
Search 100 bp 3'