Canonical Allele Identifier: CA8277322
Gene: DPH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2041654C>G , CM000679.2:g.2041654C>G GRCh38
NC_000017.10:g.1944948C>G , CM000679.1:g.1944948C>G GRCh37
NC_000017.9:g.1891698C>G NCBI36
NG_051946.1:g.16543C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001383.6:c.1227+33C>G MANE Select NP_001374.4:n.1227+33C>G
ENST00000263083.12:c.1227+33C>G MANE Select ENSP00000263083.7:n.1227+33C>G
NM_001346574.1:c.1179+33C>G NP_001333503.1:n.1179+33C>G
NM_001346575.1:c.1146+33C>G NP_001333504.1:n.1146+33C>G
NM_001346576.1:c.822+33C>G NP_001333505.1:n.822+33C>G
NM_001346576.2:c.822+33C>G NP_001333505.1:n.822+33C>G
NM_001383.3:c.1242+33C>G NP_001374.3:n.1242+33C>G
NM_001383.4:c.1242+33C>G NP_001374.3:n.1242+33C>G
NM_001383.5:c.1227+33C>G NP_001374.4:n.1227+33C>G
NR_144474.1:n.1641+33C>G
NR_144474.2:n.1600+33C>G
NR_144475.1:n.1608+33C>G
NR_144475.2:n.1567+33C>G
NR_144476.1:n.1667+33C>G
NR_144476.2:n.1626+33C>G
ENST00000263083.10:c.1242+33C>G ENSP00000263083.6:n.1242+33C>G
ENST00000263084.6:c.69+33C>G ENSP00000477033.1:n.69+33C>G
ENST00000263084.7:c.69+33C>G ENSP00000477033.1:n.69+33C>G
ENST00000570477.5:c.1002+33C>G ENSP00000458726.1:n.1002+33C>G
ENST00000570477.6:c.1002+33C>G ENSP00000458726.1:n.1002+33C>G
ENST00000570867.5:n.1337+33C>G
ENST00000570867.6:n.1337+33C>G
ENST00000571418.5:c.1205+33C>G
ENST00000571418.7:c.1194+33C>G ENSP00000458838.2:n.1194+33C>G
ENST00000571710.5:c.356+33C>G
ENST00000571710.6:c.356+33C>G
ENST00000572214.5:n.739+33C>G
ENST00000572214.6:n.739+33C>G
ENST00000572248.1:n.341+33C>G
ENST00000572248.2:n.341+33C>G
ENST00000572684.1:n.950+33C>G
ENST00000572684.2:n.950+33C>G
ENST00000575162.1:c.121C>G ENSP00000476598.1:p.Arg41Gly
ENST00000575162.2:c.121C>G ENSP00000476598.1:p.Arg41Gly
ENST00000575667.5:c.1116+33C>G
ENST00000575667.6:c.1116+33C>G
ENST00000607788.1:c.221+33C>G
ENST00000607788.2:c.221+33C>G
ENST00000674200.2:c.1242+33C>G ENSP00000501368.1:n.1242+33C>G