Canonical Allele Identifier: CA365660596
Gene: ENPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890432T>A , CM000668.2:g.131890432T>A GRCh38
NC_000006.11:g.132211572T>A , CM000668.1:g.132211572T>A GRCh37
NC_000006.10:g.132253265T>A NCBI36
NG_008206.1:g.87417T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1130T>A
ENST00000647893.1:c.2699T>A MANE Select ENSP00000498074.1:p.Phe900Tyr
ENST00000360971.6:c.2699T>A ENSP00000354238.2:p.Phe900Tyr
ENST00000513998.5:c.*1536T>A ENSP00000422424.1:n.*1536T>A
NM_006208.2:c.2699T>A NP_006199.2:p.Phe900Tyr
XM_011535896.1:c.1589T>A XP_011534198.1:p.Phe530Tyr
NM_006208.3:c.2699T>A MANE Select NP_006199.2:p.Phe900Tyr