Canonical Allele Identifier: CA3065189140

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31169590T= , CM000685.2:g.31169590T=	GRCh38
NC_000023.10:g.31187707T= , CM000685.1:g.31187707T=	GRCh37
NC_000023.9:g.31097628T=	NCBI36
NG_012232.1:g.2175020A= , LRG_199:g.2175020A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.5213A=	ENSP00000350765.3:p.His1738=
ENST00000680162.2:c.1097A=	ENSP00000506634.2:p.His366=
ENST00000680768.2:c.1163A=	ENSP00000506359.2:p.His388=
ENST00000681989.1:n.1204A=
ENST00000682207.1:n.526A=
ENST00000682238.1:c.2843+9079A=	ENSP00000508124.1:n.2843+9079A=
ENST00000682322.1:c.1097A=	ENSP00000507690.1:p.His366=
ENST00000682600.1:c.1163A=	ENSP00000507640.1:p.His388=
ENST00000682769.1:n.998A=
ENST00000683503.1:n.2221A=
ENST00000683509.1:n.1884A=
ENST00000683675.1:n.1505A=
ENST00000683709.1:n.1885A=
ENST00000683957.1:n.3859A=
ENST00000683995.1:n.551A=
ENST00000684072.1:n.635A=
ENST00000684130.1:c.2987A=	ENSP00000508037.1:p.His996=
ENST00000684342.1:n.1450A=
ENST00000684350.1:n.2221A=
ENST00000343523.7:c.2261A=	ENSP00000340057.4:p.His754=
ENST00000357033.9:c.10406A= MANE Select	ENSP00000354923.3:p.His3469=
ENST00000619831.5:c.6374A=	ENSP00000479270.2:p.His2125=
ENST00000620040.5:c.2987A=	ENSP00000478150.2:p.His996=
ENST00000679437.1:c.68A=	ENSP00000506629.1:p.His23=
ENST00000679641.1:c.*225+9079A=	ENSP00000506135.1:n.*225+9079A=
ENST00000679706.1:c.180+9079A=
ENST00000679850.1:n.5417A=
ENST00000680162.1:c.1079A=	ENSP00000506634.1:p.His360=
ENST00000680355.1:c.1019+9079A=	ENSP00000506257.1:n.1019+9079A=
ENST00000680557.1:c.603+34371A=	ENSP00000505164.1:n.603+34371A=
ENST00000680701.1:n.181A=
ENST00000680768.1:c.1106A=	ENSP00000506359.1:p.His369=
ENST00000680961.1:c.*369A=	ENSP00000506386.1:n.*369A=
ENST00000681026.1:c.68A=	ENSP00000506689.1:p.His23=
ENST00000681153.1:c.1163A=	ENSP00000505124.1:p.His388=
ENST00000343523.6:c.2219A=	ENSP00000340057.3:p.His740=
ENST00000357033.8:c.10406A=	ENSP00000354923.3:p.His3469=
ENST00000358062.6:c.3455A=	ENSP00000350765.2:p.His1152=
ENST00000359836.5:c.2987A=	ENSP00000352894.1:p.His996=
ENST00000361471.8:c.1163A=	ENSP00000354464.4:p.His388=
ENST00000378677.6:c.10394A=	ENSP00000367948.2:p.His3465=
ENST00000378680.6:c.1019+9079A=	ENSP00000367951.2:n.1019+9079A=
ENST00000378702.8:c.1202A=	ENSP00000367974.4:p.His401=
ENST00000378705.3:c.710A=	ENSP00000367977.3:p.His237=
ENST00000378707.7:c.3026A=	ENSP00000367979.3:p.His1009=
ENST00000378723.7:c.1202A=	ENSP00000367997.3:p.His401=
ENST00000474231.5:c.3026A=	ENSP00000417123.1:p.His1009=
ENST00000541735.5:c.2843+9079A=	ENSP00000444119.1:n.2843+9079A=
ENST00000619831.4:c.10391A=	ENSP00000479270.1:p.His3464=
ENST00000620040.4:c.10403A=	ENSP00000478150.1:p.His3468=
NM_000109.3:c.10382A=	NP_000100.2:p.His3461=
NM_004006.2:c.10406A= , LRG_199t1:c.10406A=	NP_003997.1:p.His3469=
NM_004009.3:c.10394A=	NP_004000.1:p.His3465=
NM_004010.3:c.10037A=	NP_004001.1:p.His3346=
NM_004011.3:c.6383A=	NP_004002.2:p.His2128=
NM_004012.3:c.6374A=	NP_004003.1:p.His2125=
NM_004013.2:c.3026A=	NP_004004.1:p.His1009=
NM_004014.2:c.2219A=	NP_004005.1:p.His740=
NM_004015.2:c.1202A=	NP_004006.1:p.His401=
NM_004016.2:c.1202A=	NP_004007.1:p.His401=
NM_004017.2:c.1163A=	NP_004008.1:p.His388=
NM_004018.2:c.1163A=	NP_004009.1:p.His388=
NM_004020.3:c.2843+9079A=	NP_004011.2:n.2843+9079A=
NM_004021.2:c.3026A=	NP_004012.1:p.His1009=
NM_004022.2:c.2987A=	NP_004013.1:p.His996=
NM_004023.2:c.2843+9079A=	NP_004014.1:n.2843+9079A=
XM_006724468.2:c.10406A=	XP_006724531.1:p.His3469=
XM_006724469.2:c.10382A=	XP_006724532.1:p.His3461=
XM_006724470.2:c.10367A=	XP_006724533.1:p.His3456=
XM_006724471.2:c.10301A=	XP_006724534.1:p.His3434=
XM_006724472.2:c.10277A=	XP_006724535.1:p.His3426=
XM_006724473.2:c.10268A=	XP_006724536.1:p.His3423=
XM_006724474.2:c.10223+9079A=	XP_006724537.1:n.10223+9079A=
XM_006724475.2:c.10223+9079A=	XP_006724538.1:n.10223+9079A=
XM_011545467.1:c.10283A=	XP_011543769.1:p.His3428=
XM_006724469.3:c.10382A=	XP_006724532.1:p.His3461=
XM_006724470.3:c.10367A=	XP_006724533.1:p.His3456=
XM_006724474.3:c.10223+9079A=	XP_006724537.1:n.10223+9079A=
XM_017029328.1:c.10367A=	XP_016884817.1:p.His3456=
XM_017029331.1:c.4580A=	XP_016884820.1:p.His1527=
NM_000109.4:c.10382A=	NP_000100.3:p.His3461=
NM_004006.3:c.10406A= MANE Select	NP_003997.2:p.His3469=
NM_004011.4:c.6383A=	NP_004002.3:p.His2128=
NM_004012.4:c.6374A=	NP_004003.2:p.His2125=
NM_004015.3:c.1202A=	NP_004006.1:p.His401=
NM_004016.3:c.1202A=	NP_004007.1:p.His401=
NM_004017.3:c.1163A=	NP_004008.1:p.His388=
NM_004018.3:c.1163A=	NP_004009.1:p.His388=
NM_004021.3:c.3026A=	NP_004012.2:p.His1009=
NM_004023.3:c.2843+9079A=	NP_004014.2:n.2843+9079A=
NM_004013.3:c.3026A=	NP_004004.2:p.His1009=
NM_004014.3:c.2219A=	NP_004005.2:p.His740=
NM_004020.4:c.2843+9079A=	NP_004011.3:n.2843+9079A=
NM_004022.3:c.2987A=	NP_004013.2:p.His996=