Canonical Allele Identifier: CA147912003
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1042326515
gnomAD v3: 6-131832714-G-A
gnomAD v4: 6-131832714-G-A
MyVariant Identifiers: chr6:g.132153854G>A (hg19) chr6:g.131832714G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131832714G>A , CM000668.2:g.131832714G>A GRCh38
NC_000006.11:g.132153854G>A , CM000668.1:g.132153854G>A GRCh37
NC_000006.10:g.132195547G>A NCBI36
NG_008206.1:g.29699G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647893.1:c.241-15062G>A MANE Select ENSP00000498074.1:n.241-15062G>A
ENST00000650507.1:c.247+6599G>A ENSP00000497375.1:n.247+6599G>A
ENST00000360971.6:c.241-15062G>A ENSP00000354238.2:n.241-15062G>A
ENST00000486853.1:n.261-15062G>A
ENST00000513998.5:c.241-15062G>A ENSP00000422424.1:n.241-15062G>A
NM_006208.2:c.241-15062G>A NP_006199.2:n.241-15062G>A
NM_006208.3:c.241-15062G>A MANE Select NP_006199.2:n.241-15062G>A
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