Canonical Allele Identifier: CA365660569
Gene: ENPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890428A>C , CM000668.2:g.131890428A>C GRCh38
NC_000006.11:g.132211568A>C , CM000668.1:g.132211568A>C GRCh37
NC_000006.10:g.132253261A>C NCBI36
NG_008206.1:g.87413A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1126A>C
ENST00000647893.1:c.2695A>C MANE Select ENSP00000498074.1:p.Ser899Arg
ENST00000360971.6:c.2695A>C ENSP00000354238.2:p.Ser899Arg
ENST00000513998.5:c.*1532A>C ENSP00000422424.1:n.*1532A>C
NM_006208.2:c.2695A>C NP_006199.2:p.Ser899Arg
XM_011535896.1:c.1585A>C XP_011534198.1:p.Ser529Arg
NM_006208.3:c.2695A>C MANE Select NP_006199.2:p.Ser899Arg