Canonical Allele Identifier: CA8276938

Gene: DPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2036011A>G , CM000679.2:g.2036011A>G	GRCh38
NC_000017.10:g.1939305A>G , CM000679.1:g.1939305A>G	GRCh37
NC_000017.9:g.1886055A>G	NCBI36
NG_051946.1:g.10900A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001383.6:c.320A>G MANE Select	NP_001374.4:p.Tyr107Cys
ENST00000263083.12:c.320A>G MANE Select	ENSP00000263083.7:p.Tyr107Cys
NM_001346574.1:c.335A>G	NP_001333503.1:p.Tyr112Cys
NM_001346575.1:c.335A>G	NP_001333504.1:p.Tyr112Cys
NM_001346576.1:c.-5-518A>G	NP_001333505.1:n.-5-518A>G
NM_001346576.2:c.-5-518A>G	NP_001333505.1:n.-5-518A>G
NM_001383.3:c.335A>G	NP_001374.3:p.Tyr112Cys
NM_001383.4:c.335A>G	NP_001374.3:p.Tyr112Cys
NM_001383.5:c.320A>G	NP_001374.4:p.Tyr107Cys
NR_144474.1:n.378A>G
NR_144474.2:n.337A>G
NR_144475.1:n.378A>G
NR_144475.2:n.337A>G
NR_144476.1:n.378A>G
NR_144476.2:n.337A>G
ENST00000263083.10:c.335A>G	ENSP00000263083.6:p.Tyr112Cys
ENST00000570477.5:c.95A>G	ENSP00000458726.1:p.Tyr32Cys
ENST00000570477.6:c.95A>G	ENSP00000458726.1:p.Tyr32Cys
ENST00000570833.5:c.65A>G	ENSP00000467936.1:p.Tyr22Cys
ENST00000571418.5:c.331A>G
ENST00000571418.7:c.320A>G	ENSP00000458838.2:p.Tyr107Cys
ENST00000572819.6:n.323A>G
ENST00000575667.5:c.290-518A>G
ENST00000575667.6:c.290-518A>G
ENST00000576129.5:n.304A>G
ENST00000576891.2:n.177A>G
ENST00000674200.2:c.335A>G	ENSP00000501368.1:p.Tyr112Cys