Canonical Allele Identifier: CA397601303

Gene: DPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2030158C>T , CM000679.2:g.2030158C>T	GRCh38
NC_000017.10:g.1933452C>T , CM000679.1:g.1933452C>T	GRCh37
NC_000017.9:g.1880202C>T	NCBI36
NG_051946.1:g.5047C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001383.6:c.-12C>T MANE Select	NP_001374.4:n.-12C>T
ENST00000263083.12:c.-12C>T MANE Select	ENSP00000263083.7:n.-12C>T
NM_001346574.1:c.4C>T	NP_001333503.1:p.Arg2Cys
NM_001346575.1:c.4C>T	NP_001333504.1:p.Arg2Cys
NM_001346576.1:c.-295C>T	NP_001333505.1:n.-295C>T
NM_001346576.2:c.-295C>T	NP_001333505.1:n.-295C>T
NM_001383.3:c.4C>T	NP_001374.3:p.Arg2Cys
NM_001383.4:c.4C>T	NP_001374.3:p.Arg2Cys
NM_001383.5:c.-12C>T	NP_001374.4:n.-12C>T
NR_144474.1:n.47C>T
NR_144474.2:n.6C>T
NR_144475.1:n.47C>T
NR_144475.2:n.6C>T
NR_144476.1:n.47C>T
NR_144476.2:n.6C>T
ENST00000263083.10:c.4C>T	ENSP00000263083.6:p.Arg2Cys
ENST00000674200.2:c.4C>T	ENSP00000501368.1:p.Arg2Cys