Canonical Allele Identifier: CA412649899
Community Standard Title: NM_004006.3(DMD):c.9484G>T (p.Glu3162Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31209577C>A , CM000685.2:g.31209577C>A GRCh38
NC_000023.10:g.31227694C>A , CM000685.1:g.31227694C>A GRCh37
NC_000023.9:g.31137615C>A NCBI36
NG_012232.1:g.2135033G>T , LRG_199:g.2135033G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.9484G>T MANE Select NP_003997.2:p.Glu3162Ter
ENST00000357033.9:c.9484G>T MANE Select ENSP00000354923.3:p.Glu3162Ter
NM_000109.3:c.9460G>T NP_000100.2:p.Glu3154Ter
NM_000109.4:c.9460G>T NP_000100.3:p.Glu3154Ter
NM_004006.2:c.9484G>T , LRG_199t1:c.9484G>T NP_003997.1:p.Glu3162Ter
NM_004009.3:c.9472G>T NP_004000.1:p.Glu3158Ter
NM_004010.3:c.9115G>T NP_004001.1:p.Glu3039Ter
NM_004011.3:c.5461G>T NP_004002.2:p.Glu1821Ter
NM_004011.4:c.5461G>T NP_004002.3:p.Glu1821Ter
NM_004012.3:c.5452G>T NP_004003.1:p.Glu1818Ter
NM_004012.4:c.5452G>T NP_004003.2:p.Glu1818Ter
NM_004013.2:c.2104G>T NP_004004.1:p.Glu702Ter
NM_004013.3:c.2104G>T NP_004004.2:p.Glu702Ter
NM_004014.2:c.1297G>T NP_004005.1:p.Glu433Ter
NM_004014.3:c.1297G>T NP_004005.2:p.Glu433Ter
NM_004015.2:c.280G>T NP_004006.1:p.Glu94Ter
NM_004015.3:c.280G>T NP_004006.1:p.Glu94Ter
NM_004016.2:c.280G>T NP_004007.1:p.Glu94Ter
NM_004016.3:c.280G>T NP_004007.1:p.Glu94Ter
NM_004017.2:c.280G>T NP_004008.1:p.Glu94Ter
NM_004017.3:c.280G>T NP_004008.1:p.Glu94Ter
NM_004018.2:c.280G>T NP_004009.1:p.Glu94Ter
NM_004018.3:c.280G>T NP_004009.1:p.Glu94Ter
NM_004019.2:c.280G>T NP_004010.1:p.Glu94Ter
NM_004019.3:c.280G>T NP_004010.1:p.Glu94Ter
NM_004020.3:c.2104G>T NP_004011.2:p.Glu702Ter
NM_004020.4:c.2104G>T NP_004011.3:p.Glu702Ter
NM_004021.2:c.2104G>T NP_004012.1:p.Glu702Ter
NM_004021.3:c.2104G>T NP_004012.2:p.Glu702Ter
NM_004022.2:c.2104G>T NP_004013.1:p.Glu702Ter
NM_004022.3:c.2104G>T NP_004013.2:p.Glu702Ter
NM_004023.2:c.2104G>T NP_004014.1:p.Glu702Ter
NM_004023.3:c.2104G>T NP_004014.2:p.Glu702Ter
ENST00000343523.6:c.1297G>T ENSP00000340057.3:p.Glu433Ter
ENST00000343523.7:c.1339G>T ENSP00000340057.4:p.Glu447Ter
ENST00000357033.8:c.9484G>T ENSP00000354923.3:p.Glu3162Ter
ENST00000358062.6:c.2572G>T ENSP00000350765.2:p.Glu858Ter
ENST00000358062.7:c.4330G>T ENSP00000350765.3:p.Glu1444Ter
ENST00000359836.5:c.2104G>T ENSP00000352894.1:p.Glu702Ter
ENST00000361471.8:c.280G>T ENSP00000354464.4:p.Glu94Ter
ENST00000378677.6:c.9472G>T ENSP00000367948.2:p.Glu3158Ter
ENST00000378680.6:c.280G>T ENSP00000367951.2:p.Glu94Ter
ENST00000378702.8:c.280G>T ENSP00000367974.4:p.Glu94Ter
ENST00000378707.7:c.2104G>T ENSP00000367979.3:p.Glu702Ter
ENST00000378723.7:c.280G>T ENSP00000367997.3:p.Glu94Ter
ENST00000469142.1:n.503G>T
ENST00000474231.5:c.2104G>T ENSP00000417123.1:p.Glu702Ter
ENST00000541735.5:c.2104G>T ENSP00000444119.1:p.Glu702Ter
ENST00000619831.4:c.9469G>T ENSP00000479270.1:p.Glu3157Ter
ENST00000619831.5:c.5452G>T ENSP00000479270.2:p.Glu1818Ter
ENST00000620040.4:c.9481G>T ENSP00000478150.1:p.Glu3161Ter
ENST00000620040.5:c.2104G>T ENSP00000478150.2:p.Glu702Ter
ENST00000679641.1:c.280G>T ENSP00000506135.1:p.Glu94Ter
ENST00000680162.1:c.157G>T ENSP00000506634.1:p.Glu53Ter
ENST00000680162.2:c.280G>T ENSP00000506634.2:p.Glu94Ter
ENST00000680355.1:c.280G>T ENSP00000506257.1:p.Glu94Ter
ENST00000680557.1:c.280G>T ENSP00000505164.1:p.Glu94Ter
ENST00000680768.1:c.223G>T ENSP00000506359.1:p.Glu75Ter
ENST00000680768.2:c.280G>T ENSP00000506359.2:p.Glu94Ter
ENST00000680961.1:c.2104G>T ENSP00000506386.1:p.Glu702Ter
ENST00000681153.1:c.280G>T ENSP00000505124.1:p.Glu94Ter
ENST00000681334.1:c.280G>T ENSP00000506066.1:p.Glu94Ter
ENST00000681654.1:n.414G>T
ENST00000681989.1:n.282G>T
ENST00000682238.1:c.2104G>T ENSP00000508124.1:p.Glu702Ter
ENST00000682322.1:c.280G>T ENSP00000507690.1:p.Glu94Ter
ENST00000682600.1:c.280G>T ENSP00000507640.1:p.Glu94Ter
ENST00000682769.1:n.282G>T
ENST00000683509.1:n.1001G>T
ENST00000683675.1:n.583G>T
ENST00000683709.1:n.1002G>T
ENST00000683957.1:n.2976G>T
ENST00000684130.1:c.2104G>T ENSP00000508037.1:p.Glu702Ter
XM_006724468.2:c.9484G>T XP_006724531.1:p.Glu3162Ter
XM_006724469.2:c.9460G>T XP_006724532.1:p.Glu3154Ter
XM_006724469.3:c.9460G>T XP_006724532.1:p.Glu3154Ter
XM_006724470.2:c.9484G>T XP_006724533.1:p.Glu3162Ter
XM_006724470.3:c.9484G>T XP_006724533.1:p.Glu3162Ter
XM_006724471.2:c.9484G>T XP_006724534.1:p.Glu3162Ter
XM_006724472.2:c.9355G>T XP_006724535.1:p.Glu3119Ter
XM_006724473.2:c.9346G>T XP_006724536.1:p.Glu3116Ter
XM_006724474.2:c.9484G>T XP_006724537.1:p.Glu3162Ter
XM_006724474.3:c.9484G>T XP_006724537.1:p.Glu3162Ter
XM_006724475.2:c.9484G>T XP_006724538.1:p.Glu3162Ter
XM_011545467.1:c.9361G>T XP_011543769.1:p.Glu3121Ter
XM_011545468.1:c.9484G>T XP_011543770.1:p.Glu3162Ter
XM_011545468.2:c.9484G>T XP_011543770.1:p.Glu3162Ter
XM_017029328.1:c.9484G>T XP_016884817.1:p.Glu3162Ter
XM_017029331.1:c.3658G>T XP_016884820.1:p.Glu1220Ter