Canonical Allele Identifier: CA819059066
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1421362660
gnomAD v3: 6-131846838-G-A
gnomAD v4: 6-131846838-G-A
MyVariant Identifiers: chr6:g.132167978G>A (hg19) chr6:g.131846838G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131846838G>A , CM000668.2:g.131846838G>A GRCh38
NC_000006.11:g.132167978G>A , CM000668.1:g.132167978G>A GRCh37
NC_000006.10:g.132209671G>A NCBI36
NG_008206.1:g.43823G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684147.1:n.519-938G>A
ENST00000647893.1:c.241-938G>A MANE Select ENSP00000498074.1:n.241-938G>A
ENST00000650507.1:c.248-938G>A ENSP00000497375.1:n.248-938G>A
ENST00000360971.6:c.241-938G>A ENSP00000354238.2:n.241-938G>A
ENST00000486853.1:n.261-938G>A
ENST00000513998.5:c.241-938G>A ENSP00000422424.1:n.241-938G>A
NM_006208.2:c.241-938G>A NP_006199.2:n.241-938G>A
NM_006208.3:c.241-938G>A MANE Select NP_006199.2:n.241-938G>A
Search 100 bp 5'
Search 100 bp 3'