Canonical Allele Identifier: CA2422339329
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31182850C= , CM000685.2:g.31182850C= GRCh38
NC_000023.10:g.31200967C= , CM000685.1:g.31200967C= GRCh37
NC_000023.9:g.31110888C= NCBI36
NG_012232.1:g.2161760G= , LRG_199:g.2161760G=

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.9862G= MANE Select NP_003997.2:p.Glu3288=
ENST00000357033.9:c.9862G= MANE Select ENSP00000354923.3:p.Glu3288=
NM_000109.3:c.9838G= NP_000100.2:p.Glu3280=
NM_000109.4:c.9838G= NP_000100.3:p.Glu3280=
NM_004006.2:c.9862G= , LRG_199t1:c.9862G= NP_003997.1:p.Glu3288=
NM_004009.3:c.9850G= NP_004000.1:p.Glu3284=
NM_004010.3:c.9493G= NP_004001.1:p.Glu3165=
NM_004011.3:c.5839G= NP_004002.2:p.Glu1947=
NM_004011.4:c.5839G= NP_004002.3:p.Glu1947=
NM_004012.3:c.5830G= NP_004003.1:p.Glu1944=
NM_004012.4:c.5830G= NP_004003.2:p.Glu1944=
NM_004013.2:c.2482G= NP_004004.1:p.Glu828=
NM_004013.3:c.2482G= NP_004004.2:p.Glu828=
NM_004014.2:c.1675G= NP_004005.1:p.Glu559=
NM_004014.3:c.1675G= NP_004005.2:p.Glu559=
NM_004015.2:c.658G= NP_004006.1:p.Glu220=
NM_004015.3:c.658G= NP_004006.1:p.Glu220=
NM_004016.2:c.658G= NP_004007.1:p.Glu220=
NM_004016.3:c.658G= NP_004007.1:p.Glu220=
NM_004017.2:c.658G= NP_004008.1:p.Glu220=
NM_004017.3:c.658G= NP_004008.1:p.Glu220=
NM_004018.2:c.658G= NP_004009.1:p.Glu220=
NM_004018.3:c.658G= NP_004009.1:p.Glu220=
NM_004019.2:c.658G= NP_004010.1:p.Glu220=
NM_004019.3:c.658G= NP_004010.1:p.Glu220=
NM_004020.3:c.2482G= NP_004011.2:p.Glu828=
NM_004020.4:c.2482G= NP_004011.3:p.Glu828=
NM_004021.2:c.2482G= NP_004012.1:p.Glu828=
NM_004021.3:c.2482G= NP_004012.2:p.Glu828=
NM_004022.2:c.2482G= NP_004013.1:p.Glu828=
NM_004022.3:c.2482G= NP_004013.2:p.Glu828=
NM_004023.2:c.2482G= NP_004014.1:p.Glu828=
NM_004023.3:c.2482G= NP_004014.2:p.Glu828=
ENST00000343523.6:c.1675G= ENSP00000340057.3:p.Glu559=
ENST00000343523.7:c.1717G= ENSP00000340057.4:p.Glu573=
ENST00000357033.8:c.9862G= ENSP00000354923.3:p.Glu3288=
ENST00000358062.6:c.2950G= ENSP00000350765.2:p.Glu984=
ENST00000358062.7:c.4708G= ENSP00000350765.3:p.Glu1570=
ENST00000359836.5:c.2482G= ENSP00000352894.1:p.Glu828=
ENST00000361471.8:c.658G= ENSP00000354464.4:p.Glu220=
ENST00000378677.6:c.9850G= ENSP00000367948.2:p.Glu3284=
ENST00000378680.6:c.658G= ENSP00000367951.2:p.Glu220=
ENST00000378702.8:c.658G= ENSP00000367974.4:p.Glu220=
ENST00000378705.3:c.232G= ENSP00000367977.3:p.Glu78=
ENST00000378707.7:c.2482G= ENSP00000367979.3:p.Glu828=
ENST00000378723.7:c.658G= ENSP00000367997.3:p.Glu220=
ENST00000474231.5:c.2482G= ENSP00000417123.1:p.Glu828=
ENST00000475732.1:n.78G=
ENST00000475732.2:n.228G=
ENST00000541735.5:c.2482G= ENSP00000444119.1:p.Glu828=
ENST00000619831.4:c.9847G= ENSP00000479270.1:p.Glu3283=
ENST00000619831.5:c.5830G= ENSP00000479270.2:p.Glu1944=
ENST00000620040.4:c.9859G= ENSP00000478150.1:p.Glu3287=
ENST00000620040.5:c.2482G= ENSP00000478150.2:p.Glu828=
ENST00000679641.1:c.604-2369G= ENSP00000506135.1:n.604-2369G=
ENST00000680162.1:c.535G= ENSP00000506634.1:p.Glu179=
ENST00000680162.2:c.658G= ENSP00000506634.2:p.Glu220=
ENST00000680355.1:c.658G= ENSP00000506257.1:p.Glu220=
ENST00000680557.1:c.603+21111G= ENSP00000505164.1:n.603+21111G=
ENST00000680768.1:c.601G= ENSP00000506359.1:p.Glu201=
ENST00000680768.2:c.658G= ENSP00000506359.2:p.Glu220=
ENST00000680961.1:c.2428-2369G= ENSP00000506386.1:n.2428-2369G=
ENST00000681153.1:c.658G= ENSP00000505124.1:p.Glu220=
ENST00000681654.1:n.792G=
ENST00000681989.1:n.660G=
ENST00000682238.1:c.2482G= ENSP00000508124.1:p.Glu828=
ENST00000682322.1:c.658G= ENSP00000507690.1:p.Glu220=
ENST00000682600.1:c.658G= ENSP00000507640.1:p.Glu220=
ENST00000682769.1:n.606-2369G=
ENST00000683509.1:n.1379G=
ENST00000683675.1:n.961G=
ENST00000683709.1:n.1380G=
ENST00000683957.1:n.3354G=
ENST00000684130.1:c.2482G= ENSP00000508037.1:p.Glu828=
XM_006724468.2:c.9862G= XP_006724531.1:p.Glu3288=
XM_006724469.2:c.9838G= XP_006724532.1:p.Glu3280=
XM_006724469.3:c.9838G= XP_006724532.1:p.Glu3280=
XM_006724470.2:c.9862G= XP_006724533.1:p.Glu3288=
XM_006724470.3:c.9862G= XP_006724533.1:p.Glu3288=
XM_006724471.2:c.9862G= XP_006724534.1:p.Glu3288=
XM_006724472.2:c.9733G= XP_006724535.1:p.Glu3245=
XM_006724473.2:c.9724G= XP_006724536.1:p.Glu3242=
XM_006724474.2:c.9862G= XP_006724537.1:p.Glu3288=
XM_006724474.3:c.9862G= XP_006724537.1:p.Glu3288=
XM_006724475.2:c.9862G= XP_006724538.1:p.Glu3288=
XM_011545467.1:c.9739G= XP_011543769.1:p.Glu3247=
XM_017029328.1:c.9862G= XP_016884817.1:p.Glu3288=
XM_017029331.1:c.4036G= XP_016884820.1:p.Glu1346=