Canonical Allele Identifier: CA412653299

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31182755A>T , CM000685.2:g.31182755A>T	GRCh38
NC_000023.10:g.31200872A>T , CM000685.1:g.31200872A>T	GRCh37
NC_000023.9:g.31110793A>T	NCBI36
NG_012232.1:g.2161855T>A , LRG_199:g.2161855T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.9957T>A MANE Select	NP_003997.2:p.Cys3319Ter
ENST00000357033.9:c.9957T>A MANE Select	ENSP00000354923.3:p.Cys3319Ter
NM_000109.3:c.9933T>A	NP_000100.2:p.Cys3311Ter
NM_000109.4:c.9933T>A	NP_000100.3:p.Cys3311Ter
NM_004006.2:c.9957T>A , LRG_199t1:c.9957T>A	NP_003997.1:p.Cys3319Ter
NM_004009.3:c.9945T>A	NP_004000.1:p.Cys3315Ter
NM_004010.3:c.9588T>A	NP_004001.1:p.Cys3196Ter
NM_004011.3:c.5934T>A	NP_004002.2:p.Cys1978Ter
NM_004011.4:c.5934T>A	NP_004002.3:p.Cys1978Ter
NM_004012.3:c.5925T>A	NP_004003.1:p.Cys1975Ter
NM_004012.4:c.5925T>A	NP_004003.2:p.Cys1975Ter
NM_004013.2:c.2577T>A	NP_004004.1:p.Cys859Ter
NM_004013.3:c.2577T>A	NP_004004.2:p.Cys859Ter
NM_004014.2:c.1770T>A	NP_004005.1:p.Cys590Ter
NM_004014.3:c.1770T>A	NP_004005.2:p.Cys590Ter
NM_004015.2:c.753T>A	NP_004006.1:p.Cys251Ter
NM_004015.3:c.753T>A	NP_004006.1:p.Cys251Ter
NM_004016.2:c.753T>A	NP_004007.1:p.Cys251Ter
NM_004016.3:c.753T>A	NP_004007.1:p.Cys251Ter
NM_004017.2:c.753T>A	NP_004008.1:p.Cys251Ter
NM_004017.3:c.753T>A	NP_004008.1:p.Cys251Ter
NM_004018.2:c.753T>A	NP_004009.1:p.Cys251Ter
NM_004018.3:c.753T>A	NP_004009.1:p.Cys251Ter
NM_004019.2:c.753T>A	NP_004010.1:p.Cys251Ter
NM_004019.3:c.753T>A	NP_004010.1:p.Cys251Ter
NM_004020.3:c.2577T>A	NP_004011.2:p.Cys859Ter
NM_004020.4:c.2577T>A	NP_004011.3:p.Cys859Ter
NM_004021.2:c.2577T>A	NP_004012.1:p.Cys859Ter
NM_004021.3:c.2577T>A	NP_004012.2:p.Cys859Ter
NM_004022.2:c.2577T>A	NP_004013.1:p.Cys859Ter
NM_004022.3:c.2577T>A	NP_004013.2:p.Cys859Ter
NM_004023.2:c.2577T>A	NP_004014.1:p.Cys859Ter
NM_004023.3:c.2577T>A	NP_004014.2:p.Cys859Ter
ENST00000343523.6:c.1770T>A	ENSP00000340057.3:p.Cys590Ter
ENST00000343523.7:c.1812T>A	ENSP00000340057.4:p.Cys604Ter
ENST00000357033.8:c.9957T>A	ENSP00000354923.3:p.Cys3319Ter
ENST00000358062.6:c.3045T>A	ENSP00000350765.2:p.Cys1015Ter
ENST00000358062.7:c.4803T>A	ENSP00000350765.3:p.Cys1601Ter
ENST00000359836.5:c.2577T>A	ENSP00000352894.1:p.Cys859Ter
ENST00000361471.8:c.753T>A	ENSP00000354464.4:p.Cys251Ter
ENST00000378677.6:c.9945T>A	ENSP00000367948.2:p.Cys3315Ter
ENST00000378680.6:c.753T>A	ENSP00000367951.2:p.Cys251Ter
ENST00000378702.8:c.753T>A	ENSP00000367974.4:p.Cys251Ter
ENST00000378705.3:c.327T>A	ENSP00000367977.3:p.Cys109Ter
ENST00000378707.7:c.2577T>A	ENSP00000367979.3:p.Cys859Ter
ENST00000378723.7:c.753T>A	ENSP00000367997.3:p.Cys251Ter
ENST00000474231.5:c.2577T>A	ENSP00000417123.1:p.Cys859Ter
ENST00000475732.1:n.173T>A
ENST00000475732.2:n.323T>A
ENST00000475732.3:n.48T>A
ENST00000541735.5:c.2577T>A	ENSP00000444119.1:p.Cys859Ter
ENST00000619831.4:c.9942T>A	ENSP00000479270.1:p.Cys3314Ter
ENST00000619831.5:c.5925T>A	ENSP00000479270.2:p.Cys1975Ter
ENST00000620040.4:c.9954T>A	ENSP00000478150.1:p.Cys3318Ter
ENST00000620040.5:c.2577T>A	ENSP00000478150.2:p.Cys859Ter
ENST00000679641.1:c.604-2274T>A	ENSP00000506135.1:n.604-2274T>A
ENST00000680162.1:c.630T>A	ENSP00000506634.1:p.Cys210Ter
ENST00000680162.2:c.753T>A	ENSP00000506634.2:p.Cys251Ter
ENST00000680355.1:c.753T>A	ENSP00000506257.1:p.Cys251Ter
ENST00000680557.1:c.603+21206T>A	ENSP00000505164.1:n.603+21206T>A
ENST00000680768.1:c.696T>A	ENSP00000506359.1:p.Cys232Ter
ENST00000680768.2:c.753T>A	ENSP00000506359.2:p.Cys251Ter
ENST00000680961.1:c.2428-2274T>A	ENSP00000506386.1:n.2428-2274T>A
ENST00000681153.1:c.753T>A	ENSP00000505124.1:p.Cys251Ter
ENST00000681654.1:n.887T>A
ENST00000681989.1:n.755T>A
ENST00000682238.1:c.2577T>A	ENSP00000508124.1:p.Cys859Ter
ENST00000682322.1:c.753T>A	ENSP00000507690.1:p.Cys251Ter
ENST00000682600.1:c.753T>A	ENSP00000507640.1:p.Cys251Ter
ENST00000682769.1:n.606-2274T>A
ENST00000683509.1:n.1474T>A
ENST00000683675.1:n.1056T>A
ENST00000683709.1:n.1475T>A
ENST00000683957.1:n.3449T>A
ENST00000684130.1:c.2577T>A	ENSP00000508037.1:p.Cys859Ter
XM_006724468.2:c.9957T>A	XP_006724531.1:p.Cys3319Ter
XM_006724469.2:c.9933T>A	XP_006724532.1:p.Cys3311Ter
XM_006724469.3:c.9933T>A	XP_006724532.1:p.Cys3311Ter
XM_006724470.2:c.9957T>A	XP_006724533.1:p.Cys3319Ter
XM_006724470.3:c.9957T>A	XP_006724533.1:p.Cys3319Ter
XM_006724471.2:c.9957T>A	XP_006724534.1:p.Cys3319Ter
XM_006724472.2:c.9828T>A	XP_006724535.1:p.Cys3276Ter
XM_006724473.2:c.9819T>A	XP_006724536.1:p.Cys3273Ter
XM_006724474.2:c.9957T>A	XP_006724537.1:p.Cys3319Ter
XM_006724474.3:c.9957T>A	XP_006724537.1:p.Cys3319Ter
XM_006724475.2:c.9957T>A	XP_006724538.1:p.Cys3319Ter
XM_011545467.1:c.9834T>A	XP_011543769.1:p.Cys3278Ter
XM_017029328.1:c.9957T>A	XP_016884817.1:p.Cys3319Ter
XM_017029331.1:c.4131T>A	XP_016884820.1:p.Cys1377Ter