Canonical Allele Identifier: CA397605420

Gene: DPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2041587G>A , CM000679.2:g.2041587G>A	GRCh38
NC_000017.10:g.1944881G>A , CM000679.1:g.1944881G>A	GRCh37
NC_000017.9:g.1891631G>A	NCBI36
NG_051946.1:g.16476G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263083.12:c.1193G>A MANE Select	ENSP00000263083.7:p.Arg398His
ENST00000263084.7:c.35G>A	ENSP00000477033.1:p.Arg12His
ENST00000570477.6:c.968G>A	ENSP00000458726.1:p.Arg323His
ENST00000570867.6:n.1303G>A
ENST00000571418.7:c.1160G>A	ENSP00000458838.2:p.Arg387His
ENST00000571710.6:c.322G>A
ENST00000572214.6:n.705G>A
ENST00000572248.2:n.307G>A
ENST00000572684.2:n.916G>A
ENST00000575162.2:c.54G>A	ENSP00000476598.1:p.Pro18=
ENST00000575667.6:c.1082G>A
ENST00000607788.2:c.187G>A
ENST00000674200.2:c.1208G>A	ENSP00000501368.1:p.Arg403His
ENST00000263083.10:c.1208G>A	ENSP00000263083.6:p.Arg403His
ENST00000263084.6:c.35G>A	ENSP00000477033.1:p.Arg12His
ENST00000570477.5:c.968G>A	ENSP00000458726.1:p.Arg323His
ENST00000570867.5:n.1303G>A
ENST00000571418.5:c.1171G>A
ENST00000571710.5:c.322G>A
ENST00000572214.5:n.705G>A
ENST00000572248.1:n.307G>A
ENST00000572684.1:n.916G>A
ENST00000575162.1:c.54G>A	ENSP00000476598.1:p.Pro18=
ENST00000575667.5:c.1082G>A
ENST00000607788.1:c.187G>A
NM_001383.3:c.1208G>A	NP_001374.3:p.Arg403His
NM_001346574.1:c.1145G>A	NP_001333503.1:p.Arg382His
NM_001346575.1:c.1112G>A	NP_001333504.1:p.Arg371His
NM_001346576.1:c.788G>A	NP_001333505.1:p.Arg263His
NM_001383.4:c.1208G>A	NP_001374.3:p.Arg403His
NR_144474.1:n.1607G>A
NR_144475.1:n.1574G>A
NR_144476.1:n.1633G>A
NM_001383.5:c.1193G>A	NP_001374.4:p.Arg398His
NM_001346576.2:c.788G>A	NP_001333505.1:p.Arg263His
NM_001383.6:c.1193G>A MANE Select	NP_001374.4:p.Arg398His
NR_144474.2:n.1566G>A
NR_144475.2:n.1533G>A
NR_144476.2:n.1592G>A