Canonical Allele Identifier: CA6314514

Gene: DPAGT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119097870C>T , CM000673.2:g.119097870C>T	GRCh38
NC_000011.9:g.118968580C>T , CM000673.1:g.118968580C>T	GRCh37
NC_000011.8:g.118473790C>T	NCBI36
NG_008918.1:g.9206G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001382.4:c.902G>A MANE Select	NP_001373.2:p.Arg301His
ENST00000354202.9:c.902G>A MANE Select	ENSP00000346142.4:p.Arg301His
NM_001382.3:c.902G>A	NP_001373.2:p.Arg301His
ENST00000354202.8:c.902G>A	ENSP00000346142.4:p.Arg301His
ENST00000392834.7:c.*607G>A	ENSP00000376579.3:n.*607G>A
ENST00000409993.6:c.902G>A	ENSP00000386597.2:p.Arg301His
ENST00000414373.5:c.*474+533G>A	ENSP00000402019.1:n.*474+533G>A
ENST00000442480.1:c.634G>A	ENSP00000406591.1:p.Ala212Thr
ENST00000445653.6:n.960G>A
ENST00000461999.1:n.766G>A
ENST00000481084.5:n.1531G>A
ENST00000524658.1:n.207G>A
ENST00000524658.2:n.941G>A
ENST00000525456.5:n.732-319G>A
ENST00000530052.2:n.1644G>A
ENST00000636404.1:c.232+533G>A
ENST00000638850.1:c.406G>A
ENST00000639704.1:c.809G>A	ENSP00000491336.1:p.Arg270His
ENST00000640102.1:c.*555G>A	ENSP00000492027.1:n.*555G>A
ENST00000640747.1:c.*577G>A	ENSP00000492730.1:n.*577G>A
ENST00000682191.1:n.1104G>A
ENST00000682192.1:n.1104G>A
ENST00000682232.1:c.*607G>A	ENSP00000507302.1:n.*607G>A
ENST00000682326.1:c.902G>A	ENSP00000508129.1:p.Arg301His
ENST00000682404.1:n.2003G>A
ENST00000682517.1:n.2003G>A
ENST00000682652.1:n.1873G>A
ENST00000682665.1:n.1299G>A
ENST00000682691.1:n.1299G>A
ENST00000682791.1:c.815G>A	ENSP00000507312.1:p.Arg272His
ENST00000682811.1:c.784G>A	ENSP00000508196.1:p.Ala262Thr
ENST00000682883.1:n.1031+533G>A
ENST00000682946.1:c.729-319G>A	ENSP00000506856.1:n.729-319G>A
ENST00000683143.1:c.*607G>A	ENSP00000507168.1:n.*607G>A
ENST00000683373.1:n.1104G>A
ENST00000683558.1:n.1104G>A
ENST00000683567.1:n.1011G>A
ENST00000683955.1:n.1658G>A
ENST00000684142.1:c.*577G>A	ENSP00000508008.1:n.*577G>A
ENST00000684252.1:n.1299G>A
ENST00000684255.1:c.*607G>A	ENSP00000507398.1:n.*607G>A
ENST00000684315.1:n.1635G>A
ENST00000684345.1:c.*577G>A	ENSP00000507163.1:n.*577G>A
ENST00000684499.1:c.*1007G>A	ENSP00000506800.1:n.*1007G>A
ENST00000684682.1:c.*330G>A	ENSP00000507326.1:n.*330G>A
XM_005271422.2:c.902G>A	XP_005271479.1:p.Arg301His
XM_005271422.3:c.902G>A	XP_005271479.1:p.Arg301His
XM_011542648.1:c.581G>A	XP_011540950.1:p.Arg194His
XM_011542648.2:c.581G>A	XP_011540950.1:p.Arg194His
XM_017017293.2:c.581G>A	XP_016872782.1:p.Arg194His
XM_017017294.2:c.729-319G>A	XP_016872783.1:n.729-319G>A
XM_017017295.1:c.386G>A	XP_016872784.1:p.Arg129His
XR_001747785.2:n.952-319G>A
XR_947801.1:n.1164+533G>A
XR_947801.2:n.951+533G>A