Canonical Allele Identifier: CA7468635

Gene: DPH6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.35538464C>T , CM000677.2:g.35538464C>T	GRCh38
NC_000015.9:g.35830665C>T , CM000677.1:g.35830665C>T	GRCh37
NC_000015.8:g.33617957C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_080650.4:c.122G>A MANE Select	NP_542381.1:p.Gly41Glu
ENST00000256538.9:c.122G>A MANE Select	ENSP00000256538.4:p.Gly41Glu
NM_001141972.1:c.122G>A	NP_001135444.1:p.Gly41Glu
NM_001141972.2:c.122G>A	NP_001135444.1:p.Gly41Glu
NM_080650.3:c.122G>A	NP_542381.1:p.Gly41Glu
ENST00000256538.8:c.122G>A	ENSP00000256538.4:p.Gly41Glu
ENST00000440392.3:c.122G>A	ENSP00000406976.2:p.Gly41Glu
ENST00000559585.5:n.134G>A
ENST00000559784.5:n.83G>A
ENST00000560526.1:n.174G>A
ENST00000561411.1:c.-23G>A	ENSP00000453967.1:n.-23G>A
XM_005254751.3:c.122G>A	XP_005254808.2:p.Gly41Glu
XM_011522158.1:c.122G>A	XP_011520460.1:p.Gly41Glu
XM_011522159.1:c.122G>A	XP_011520461.1:p.Gly41Glu
XM_011522160.1:c.122G>A	XP_011520462.1:p.Gly41Glu
XM_011522160.2:c.122G>A	XP_011520462.1:p.Gly41Glu
XM_017022707.2:c.122G>A	XP_016878196.1:p.Gly41Glu
XM_017022708.2:c.122G>A	XP_016878197.1:p.Gly41Glu
XM_017022709.2:c.122G>A	XP_016878198.1:p.Gly41Glu
XR_001751411.2:n.174G>A
XR_001751412.2:n.174G>A
XR_001751413.2:n.174G>A