Canonical Allele Identifier: CA328402836

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31147360C>T , CM000685.2:g.31147360C>T	GRCh38
NC_000023.10:g.31165477C>T , CM000685.1:g.31165477C>T	GRCh37
NC_000023.9:g.31075398C>T	NCBI36
NG_012232.1:g.2197250G>A , LRG_199:g.2197250G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10712G>A MANE Select	NP_003997.2:p.Arg3571His
ENST00000357033.9:c.10712G>A MANE Select	ENSP00000354923.3:p.Arg3571His
NM_000109.3:c.10688G>A	NP_000100.2:p.Arg3563His
NM_000109.4:c.10688G>A	NP_000100.3:p.Arg3563His
NM_004006.2:c.10712G>A , LRG_199t1:c.10712G>A	NP_003997.1:p.Arg3571His
NM_004009.3:c.10700G>A	NP_004000.1:p.Arg3567His
NM_004010.3:c.10343G>A	NP_004001.1:p.Arg3448His
NM_004011.3:c.6689G>A	NP_004002.2:p.Arg2230His
NM_004011.4:c.6689G>A	NP_004002.3:p.Arg2230His
NM_004012.3:c.6680G>A	NP_004003.1:p.Arg2227His
NM_004012.4:c.6680G>A	NP_004003.2:p.Arg2227His
NM_004013.2:c.3332G>A	NP_004004.1:p.Arg1111His
NM_004013.3:c.3332G>A	NP_004004.2:p.Arg1111His
NM_004014.2:c.2525G>A	NP_004005.1:p.Arg842His
NM_004014.3:c.2525G>A	NP_004005.2:p.Arg842His
NM_004015.2:c.1508G>A	NP_004006.1:p.Arg503His
NM_004015.3:c.1508G>A	NP_004006.1:p.Arg503His
NM_004016.2:c.1508G>A	NP_004007.1:p.Arg503His
NM_004016.3:c.1508G>A	NP_004007.1:p.Arg503His
NM_004017.2:c.1469G>A	NP_004008.1:p.Arg490His
NM_004017.3:c.1469G>A	NP_004008.1:p.Arg490His
NM_004018.2:c.1469G>A	NP_004009.1:p.Arg490His
NM_004018.3:c.1469G>A	NP_004009.1:p.Arg490His
NM_004020.3:c.3002G>A	NP_004011.2:p.Arg1001His
NM_004020.4:c.3002G>A	NP_004011.3:p.Arg1001His
NM_004021.2:c.3332G>A	NP_004012.1:p.Arg1111His
NM_004021.3:c.3332G>A	NP_004012.2:p.Arg1111His
NM_004022.2:c.3293G>A	NP_004013.1:p.Arg1098His
NM_004022.3:c.3293G>A	NP_004013.2:p.Arg1098His
NM_004023.2:c.3002G>A	NP_004014.1:p.Arg1001His
NM_004023.3:c.3002G>A	NP_004014.2:p.Arg1001His
ENST00000343523.6:c.2525G>A	ENSP00000340057.3:p.Arg842His
ENST00000343523.7:c.2567G>A	ENSP00000340057.4:p.Arg856His
ENST00000357033.8:c.10712G>A	ENSP00000354923.3:p.Arg3571His
ENST00000358062.6:c.3761G>A	ENSP00000350765.2:p.Arg1254His
ENST00000358062.7:c.5519G>A	ENSP00000350765.3:p.Arg1840His
ENST00000359836.5:c.3293G>A	ENSP00000352894.1:p.Arg1098His
ENST00000361471.8:c.1469G>A	ENSP00000354464.4:p.Arg490His
ENST00000378677.6:c.10700G>A	ENSP00000367948.2:p.Arg3567His
ENST00000378680.6:c.1178G>A	ENSP00000367951.2:p.Arg393His
ENST00000378702.8:c.1508G>A	ENSP00000367974.4:p.Arg503His
ENST00000378707.7:c.3332G>A	ENSP00000367979.3:p.Arg1111His
ENST00000378723.7:c.1508G>A	ENSP00000367997.3:p.Arg503His
ENST00000474231.5:c.3332G>A	ENSP00000417123.1:p.Arg1111His
ENST00000481143.2:n.114+22083G>A
ENST00000541735.5:c.3002G>A	ENSP00000444119.1:p.Arg1001His
ENST00000619831.4:c.10697G>A	ENSP00000479270.1:p.Arg3566His
ENST00000619831.5:c.6680G>A	ENSP00000479270.2:p.Arg2227His
ENST00000620040.4:c.10709G>A	ENSP00000478150.1:p.Arg3570His
ENST00000620040.5:c.3293G>A	ENSP00000478150.2:p.Arg1098His
ENST00000679437.1:c.374G>A	ENSP00000506629.1:p.Arg125His
ENST00000679641.1:c.*384G>A	ENSP00000506135.1:n.*384G>A
ENST00000679706.1:c.339G>A
ENST00000679850.1:n.5723G>A
ENST00000680162.1:c.1385G>A	ENSP00000506634.1:p.Arg462His
ENST00000680162.2:c.1403G>A	ENSP00000506634.2:p.Arg468His
ENST00000680355.1:c.1178G>A	ENSP00000506257.1:p.Arg393His
ENST00000680557.1:c.604-13166G>A	ENSP00000505164.1:n.604-13166G>A
ENST00000680701.1:n.487G>A
ENST00000680768.1:c.1412G>A	ENSP00000506359.1:p.Arg471His
ENST00000680768.2:c.1469G>A	ENSP00000506359.2:p.Arg490His
ENST00000680961.1:c.*675G>A	ENSP00000506386.1:n.*675G>A
ENST00000681026.1:c.374G>A	ENSP00000506689.1:p.Arg125His
ENST00000681153.1:c.1469G>A	ENSP00000505124.1:p.Arg490His
ENST00000681989.1:n.1510G>A
ENST00000682207.1:n.832G>A
ENST00000682238.1:c.3002G>A	ENSP00000508124.1:p.Arg1001His
ENST00000682322.1:c.1403G>A	ENSP00000507690.1:p.Arg468His
ENST00000682600.1:c.1469G>A	ENSP00000507640.1:p.Arg490His
ENST00000682769.1:n.1304G>A
ENST00000683503.1:n.2527G>A
ENST00000683509.1:n.2190G>A
ENST00000683675.1:n.1811G>A
ENST00000683709.1:n.2191G>A
ENST00000683957.1:n.4165G>A
ENST00000683995.1:n.857G>A
ENST00000684072.1:n.941G>A
ENST00000684103.1:n.1120G>A
ENST00000684130.1:c.3293G>A	ENSP00000508037.1:p.Arg1098His
ENST00000684342.1:n.1756G>A
ENST00000684350.1:n.2527G>A
XM_006724468.2:c.10712G>A	XP_006724531.1:p.Arg3571His
XM_006724469.2:c.10688G>A	XP_006724532.1:p.Arg3563His
XM_006724469.3:c.10688G>A	XP_006724532.1:p.Arg3563His
XM_006724470.2:c.10673G>A	XP_006724533.1:p.Arg3558His
XM_006724470.3:c.10673G>A	XP_006724533.1:p.Arg3558His
XM_006724471.2:c.10607G>A	XP_006724534.1:p.Arg3536His
XM_006724472.2:c.10583G>A	XP_006724535.1:p.Arg3528His
XM_006724473.2:c.10574G>A	XP_006724536.1:p.Arg3525His
XM_006724474.2:c.10382G>A	XP_006724537.1:p.Arg3461His
XM_006724474.3:c.10382G>A	XP_006724537.1:p.Arg3461His
XM_006724475.2:c.10382G>A	XP_006724538.1:p.Arg3461His
XM_011545467.1:c.10589G>A	XP_011543769.1:p.Arg3530His
XM_017029328.1:c.10673G>A	XP_016884817.1:p.Arg3558His
XM_017029331.1:c.4886G>A	XP_016884820.1:p.Arg1629His