Canonical Allele Identifier: CA365660738
Gene: ENPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890440C>A , CM000668.2:g.131890440C>A GRCh38
NC_000006.11:g.132211580C>A , CM000668.1:g.132211580C>A GRCh37
NC_000006.10:g.132253273C>A NCBI36
NG_008206.1:g.87425C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1138C>A
ENST00000647893.1:c.2707C>A MANE Select ENSP00000498074.1:p.Gln903Lys
ENST00000360971.6:c.2707C>A ENSP00000354238.2:p.Gln903Lys
ENST00000513998.5:c.*1544C>A ENSP00000422424.1:n.*1544C>A
NM_006208.2:c.2707C>A NP_006199.2:p.Gln903Lys
XM_011535896.1:c.1597C>A XP_011534198.1:p.Gln533Lys
NM_006208.3:c.2707C>A MANE Select NP_006199.2:p.Gln903Lys