Canonical Allele Identifier: CA8276866

Gene: DPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2033642G>A , CM000679.2:g.2033642G>A	GRCh38
NC_000017.10:g.1936936G>A , CM000679.1:g.1936936G>A	GRCh37
NC_000017.9:g.1883686G>A	NCBI36
NG_051946.1:g.8531G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001383.6:c.199G>A MANE Select	NP_001374.4:p.Ala67Thr
ENST00000263083.12:c.199G>A MANE Select	ENSP00000263083.7:p.Ala67Thr
NM_001346574.1:c.214G>A	NP_001333503.1:p.Ala72Thr
NM_001346575.1:c.214G>A	NP_001333504.1:p.Ala72Thr
NM_001346576.1:c.-85G>A	NP_001333505.1:n.-85G>A
NM_001346576.2:c.-85G>A	NP_001333505.1:n.-85G>A
NM_001383.3:c.214G>A	NP_001374.3:p.Ala72Thr
NM_001383.4:c.214G>A	NP_001374.3:p.Ala72Thr
NM_001383.5:c.199G>A	NP_001374.4:p.Ala67Thr
NR_144474.1:n.257G>A
NR_144474.2:n.216G>A
NR_144475.1:n.257G>A
NR_144475.2:n.216G>A
NR_144476.1:n.257G>A
NR_144476.2:n.216G>A
ENST00000263083.10:c.214G>A	ENSP00000263083.6:p.Ala72Thr
ENST00000570477.5:c.-27G>A	ENSP00000458726.1:n.-27G>A
ENST00000570477.6:c.-27G>A	ENSP00000458726.1:n.-27G>A
ENST00000571418.5:c.210G>A
ENST00000571418.7:c.199G>A	ENSP00000458838.2:p.Ala67Thr
ENST00000572819.6:n.202G>A
ENST00000575667.5:c.210G>A
ENST00000575667.6:c.210G>A
ENST00000576129.5:n.183G>A
ENST00000674200.2:c.214G>A	ENSP00000501368.1:p.Ala72Thr