Canonical Allele Identifier: CA497309543

Gene: DPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2033545T>G , CM000679.2:g.2033545T>G	GRCh38
NC_000017.10:g.1936839T>G , CM000679.1:g.1936839T>G	GRCh37
NC_000017.9:g.1883589T>G	NCBI36
NG_051946.1:g.8434T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263083.12:c.102T>G MANE Select	ENSP00000263083.7:p.Pro34=
ENST00000570477.6:c.-124T>G	ENSP00000458726.1:n.-124T>G
ENST00000571418.7:c.102T>G	ENSP00000458838.2:p.Pro34=
ENST00000575667.6:c.113T>G
ENST00000674200.2:c.117T>G	ENSP00000501368.1:p.Pro39=
ENST00000263083.10:c.117T>G	ENSP00000263083.6:p.Pro39=
ENST00000570477.5:c.-124T>G	ENSP00000458726.1:n.-124T>G
ENST00000571418.5:c.113T>G
ENST00000572819.6:n.105T>G
ENST00000575667.5:c.113T>G
ENST00000576129.5:n.86T>G
NM_001383.3:c.117T>G	NP_001374.3:p.Pro39=
NM_001346574.1:c.117T>G	NP_001333503.1:p.Pro39=
NM_001346575.1:c.117T>G	NP_001333504.1:p.Pro39=
NM_001346576.1:c.-182T>G	NP_001333505.1:n.-182T>G
NM_001383.4:c.117T>G	NP_001374.3:p.Pro39=
NR_144474.1:n.160T>G
NR_144475.1:n.160T>G
NR_144476.1:n.160T>G
NM_001383.5:c.102T>G	NP_001374.4:p.Pro34=
NM_001346576.2:c.-182T>G	NP_001333505.1:n.-182T>G
NM_001383.6:c.102T>G MANE Select	NP_001374.4:p.Pro34=
NR_144474.2:n.119T>G
NR_144475.2:n.119T>G
NR_144476.2:n.119T>G