Canonical Allele Identifier: CA382915184
Community Standard Title: NM_001382.4(DPAGT1):c.362G>A (p.Arg121His)
Gene: DPAGT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119100764C>T , CM000673.2:g.119100764C>T GRCh38
NC_000011.9:g.118971474C>T , CM000673.1:g.118971474C>T GRCh37
NC_000011.8:g.118476684C>T NCBI36
NG_008918.1:g.6312G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001382.4:c.362G>A MANE Select NP_001373.2:p.Arg121His
ENST00000354202.9:c.362G>A MANE Select ENSP00000346142.4:p.Arg121His
NM_001382.3:c.362G>A NP_001373.2:p.Arg121His
ENST00000354202.8:c.362G>A ENSP00000346142.4:p.Arg121His
ENST00000392834.7:c.*67G>A ENSP00000376579.3:n.*67G>A
ENST00000409993.6:c.362G>A ENSP00000386597.2:p.Arg121His
ENST00000414373.5:c.*108G>A ENSP00000402019.1:n.*108G>A
ENST00000442480.1:c.212G>A ENSP00000406591.1:p.Arg71His
ENST00000445653.5:n.448G>A
ENST00000445653.6:n.538G>A
ENST00000460183.1:n.923G>A
ENST00000481084.5:n.1125+254G>A
ENST00000525456.5:n.365G>A
ENST00000530052.1:n.260G>A
ENST00000530052.2:n.1104G>A
ENST00000533687.1:n.153G>A
ENST00000639704.1:c.283-14G>A ENSP00000491336.1:n.283-14G>A
ENST00000640102.1:c.*15G>A ENSP00000492027.1:n.*15G>A
ENST00000640747.1:c.*37G>A ENSP00000492730.1:n.*37G>A
ENST00000682191.1:n.564G>A
ENST00000682192.1:n.564G>A
ENST00000682232.1:c.*67G>A ENSP00000507302.1:n.*67G>A
ENST00000682326.1:c.362G>A ENSP00000508129.1:p.Arg121His
ENST00000682404.1:n.1104G>A
ENST00000682517.1:n.1104G>A
ENST00000682652.1:n.1333G>A
ENST00000682665.1:n.759G>A
ENST00000682691.1:n.759G>A
ENST00000682791.1:c.275G>A ENSP00000507312.1:p.Arg92His
ENST00000682811.1:c.362G>A ENSP00000508196.1:p.Arg121His
ENST00000682883.1:n.665G>A
ENST00000682946.1:c.362G>A ENSP00000506856.1:p.Arg121His
ENST00000683143.1:c.*67G>A ENSP00000507168.1:n.*67G>A
ENST00000683373.1:n.564G>A
ENST00000683558.1:n.564G>A
ENST00000683567.1:n.589G>A
ENST00000683955.1:n.759G>A
ENST00000684142.1:c.*37G>A ENSP00000508008.1:n.*37G>A
ENST00000684252.1:n.759G>A
ENST00000684255.1:c.*67G>A ENSP00000507398.1:n.*67G>A
ENST00000684315.1:n.1095G>A
ENST00000684345.1:c.*37G>A ENSP00000507163.1:n.*37G>A
ENST00000684499.1:c.*467G>A ENSP00000506800.1:n.*467G>A
ENST00000684682.1:c.162-356G>A ENSP00000507326.1:n.162-356G>A
XM_005271422.2:c.362G>A XP_005271479.1:p.Arg121His
XM_005271422.3:c.362G>A XP_005271479.1:p.Arg121His
XM_011542648.1:c.41G>A XP_011540950.1:p.Arg14His
XM_011542648.2:c.41G>A XP_011540950.1:p.Arg14His
XM_017017293.2:c.41G>A XP_016872782.1:p.Arg14His
XM_017017294.2:c.362G>A XP_016872783.1:p.Arg121His
XM_017017295.1:c.-20-356G>A XP_016872784.1:n.-20-356G>A
XR_001747785.2:n.585G>A
XR_947801.1:n.798G>A
XR_947801.2:n.585G>A