Canonical Allele Identifier: CA2680366436
Gene: ENPP1 HGNC NCBI

Linked Data

gnomAD v4: 6-131851466-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851466C>A , CM000668.2:g.131851466C>A GRCh38
NC_000006.11:g.132172606C>A , CM000668.1:g.132172606C>A GRCh37
NC_000006.10:g.132214299C>A NCBI36
NG_008206.1:g.48451C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+199C>A MANE Select ENSP00000498074.1:n.556+199C>A
ENST00000650147.1:c.234+199C>A
ENST00000650437.1:c.108+1360C>A
ENST00000360971.6:c.556+199C>A ENSP00000354238.2:n.556+199C>A
ENST00000513998.5:c.556+199C>A ENSP00000422424.1:n.556+199C>A
NM_006208.2:c.556+199C>A NP_006199.2:n.556+199C>A
NM_006208.3:c.556+199C>A MANE Select NP_006199.2:n.556+199C>A
Search 100 bp 5'
Search 100 bp 3'