Canonical Allele Identifier: CA412653107
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31180423G>C , CM000685.2:g.31180423G>C GRCh38
NC_000023.10:g.31198540G>C , CM000685.1:g.31198540G>C GRCh37
NC_000023.9:g.31108461G>C NCBI36
NG_012232.1:g.2164187C>G , LRG_199:g.2164187C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.10033C>G MANE Select NP_003997.2:p.Arg3345Gly
ENST00000357033.9:c.10033C>G MANE Select ENSP00000354923.3:p.Arg3345Gly
NM_000109.3:c.10009C>G NP_000100.2:p.Arg3337Gly
NM_000109.4:c.10009C>G NP_000100.3:p.Arg3337Gly
NM_004006.2:c.10033C>G , LRG_199t1:c.10033C>G NP_003997.1:p.Arg3345Gly
NM_004009.3:c.10021C>G NP_004000.1:p.Arg3341Gly
NM_004010.3:c.9664C>G NP_004001.1:p.Arg3222Gly
NM_004011.3:c.6010C>G NP_004002.2:p.Arg2004Gly
NM_004011.4:c.6010C>G NP_004002.3:p.Arg2004Gly
NM_004012.3:c.6001C>G NP_004003.1:p.Arg2001Gly
NM_004012.4:c.6001C>G NP_004003.2:p.Arg2001Gly
NM_004013.2:c.2653C>G NP_004004.1:p.Arg885Gly
NM_004013.3:c.2653C>G NP_004004.2:p.Arg885Gly
NM_004014.2:c.1846C>G NP_004005.1:p.Arg616Gly
NM_004014.3:c.1846C>G NP_004005.2:p.Arg616Gly
NM_004015.2:c.829C>G NP_004006.1:p.Arg277Gly
NM_004015.3:c.829C>G NP_004006.1:p.Arg277Gly
NM_004016.2:c.829C>G NP_004007.1:p.Arg277Gly
NM_004016.3:c.829C>G NP_004007.1:p.Arg277Gly
NM_004017.2:c.829C>G NP_004008.1:p.Arg277Gly
NM_004017.3:c.829C>G NP_004008.1:p.Arg277Gly
NM_004018.2:c.829C>G NP_004009.1:p.Arg277Gly
NM_004018.3:c.829C>G NP_004009.1:p.Arg277Gly
NM_004019.2:c.829C>G NP_004010.1:p.Arg277Gly
NM_004019.3:c.829C>G NP_004010.1:p.Arg277Gly
NM_004020.3:c.2653C>G NP_004011.2:p.Arg885Gly
NM_004020.4:c.2653C>G NP_004011.3:p.Arg885Gly
NM_004021.2:c.2653C>G NP_004012.1:p.Arg885Gly
NM_004021.3:c.2653C>G NP_004012.2:p.Arg885Gly
NM_004022.2:c.2653C>G NP_004013.1:p.Arg885Gly
NM_004022.3:c.2653C>G NP_004013.2:p.Arg885Gly
NM_004023.2:c.2653C>G NP_004014.1:p.Arg885Gly
NM_004023.3:c.2653C>G NP_004014.2:p.Arg885Gly
ENST00000343523.6:c.1846C>G ENSP00000340057.3:p.Arg616Gly
ENST00000343523.7:c.1888C>G ENSP00000340057.4:p.Arg630Gly
ENST00000357033.8:c.10033C>G ENSP00000354923.3:p.Arg3345Gly
ENST00000358062.6:c.3121C>G ENSP00000350765.2:p.Arg1041Gly
ENST00000358062.7:c.4879C>G ENSP00000350765.3:p.Arg1627Gly
ENST00000359836.5:c.2653C>G ENSP00000352894.1:p.Arg885Gly
ENST00000361471.8:c.829C>G ENSP00000354464.4:p.Arg277Gly
ENST00000378677.6:c.10021C>G ENSP00000367948.2:p.Arg3341Gly
ENST00000378680.6:c.829C>G ENSP00000367951.2:p.Arg277Gly
ENST00000378702.8:c.829C>G ENSP00000367974.4:p.Arg277Gly
ENST00000378705.3:c.403C>G ENSP00000367977.3:p.Arg135Gly
ENST00000378707.7:c.2653C>G ENSP00000367979.3:p.Arg885Gly
ENST00000378723.7:c.829C>G ENSP00000367997.3:p.Arg277Gly
ENST00000474231.5:c.2653C>G ENSP00000417123.1:p.Arg885Gly
ENST00000475732.1:n.249C>G
ENST00000475732.2:n.399C>G
ENST00000475732.3:n.2380C>G
ENST00000541735.5:c.2653C>G ENSP00000444119.1:p.Arg885Gly
ENST00000619831.4:c.10018C>G ENSP00000479270.1:p.Arg3340Gly
ENST00000619831.5:c.6001C>G ENSP00000479270.2:p.Arg2001Gly
ENST00000620040.4:c.10030C>G ENSP00000478150.1:p.Arg3344Gly
ENST00000620040.5:c.2653C>G ENSP00000478150.2:p.Arg885Gly
ENST00000679641.1:c.*35C>G ENSP00000506135.1:n.*35C>G
ENST00000680162.1:c.706C>G ENSP00000506634.1:p.Arg236Gly
ENST00000680162.2:c.829C>G ENSP00000506634.2:p.Arg277Gly
ENST00000680355.1:c.829C>G ENSP00000506257.1:p.Arg277Gly
ENST00000680557.1:c.603+23538C>G ENSP00000505164.1:n.603+23538C>G
ENST00000680768.1:c.772C>G ENSP00000506359.1:p.Arg258Gly
ENST00000680768.2:c.829C>G ENSP00000506359.2:p.Arg277Gly
ENST00000680961.1:c.*35C>G ENSP00000506386.1:n.*35C>G
ENST00000681153.1:c.829C>G ENSP00000505124.1:p.Arg277Gly
ENST00000681654.1:n.963C>G
ENST00000681989.1:n.831C>G
ENST00000682238.1:c.2653C>G ENSP00000508124.1:p.Arg885Gly
ENST00000682322.1:c.829C>G ENSP00000507690.1:p.Arg277Gly
ENST00000682600.1:c.829C>G ENSP00000507640.1:p.Arg277Gly
ENST00000682769.1:n.664C>G
ENST00000683509.1:n.1550C>G
ENST00000683675.1:n.1132C>G
ENST00000683709.1:n.1551C>G
ENST00000683957.1:n.3525C>G
ENST00000684130.1:c.2653C>G ENSP00000508037.1:p.Arg885Gly
XM_006724468.2:c.10033C>G XP_006724531.1:p.Arg3345Gly
XM_006724469.2:c.10009C>G XP_006724532.1:p.Arg3337Gly
XM_006724469.3:c.10009C>G XP_006724532.1:p.Arg3337Gly
XM_006724470.2:c.10033C>G XP_006724533.1:p.Arg3345Gly
XM_006724470.3:c.10033C>G XP_006724533.1:p.Arg3345Gly
XM_006724471.2:c.10033C>G XP_006724534.1:p.Arg3345Gly
XM_006724472.2:c.9904C>G XP_006724535.1:p.Arg3302Gly
XM_006724473.2:c.9895C>G XP_006724536.1:p.Arg3299Gly
XM_006724474.2:c.10033C>G XP_006724537.1:p.Arg3345Gly
XM_006724474.3:c.10033C>G XP_006724537.1:p.Arg3345Gly
XM_006724475.2:c.10033C>G XP_006724538.1:p.Arg3345Gly
XM_011545467.1:c.9910C>G XP_011543769.1:p.Arg3304Gly
XM_017029328.1:c.10033C>G XP_016884817.1:p.Arg3345Gly
XM_017029331.1:c.4207C>G XP_016884820.1:p.Arg1403Gly