Canonical Allele Identifier: CA412652761
Gene: DMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31178711T>C , CM000685.2:g.31178711T>C GRCh38
NC_000023.10:g.31196828T>C , CM000685.1:g.31196828T>C GRCh37
NC_000023.9:g.31106749T>C NCBI36
NG_012232.1:g.2165899A>G , LRG_199:g.2165899A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.5027A>G ENSP00000350765.3:p.Tyr1676Cys
ENST00000475732.3:n.2528A>G
ENST00000680162.2:c.977A>G ENSP00000506634.2:p.Tyr326Cys
ENST00000680768.2:c.977A>G ENSP00000506359.2:p.Tyr326Cys
ENST00000681989.1:n.979A>G
ENST00000682238.1:c.2801A>G ENSP00000508124.1:p.Tyr934Cys
ENST00000682322.1:c.977A>G ENSP00000507690.1:p.Tyr326Cys
ENST00000682600.1:c.977A>G ENSP00000507640.1:p.Tyr326Cys
ENST00000682769.1:n.812A>G
ENST00000683509.1:n.1698A>G
ENST00000683675.1:n.1280A>G
ENST00000683709.1:n.1699A>G
ENST00000683957.1:n.3673A>G
ENST00000684130.1:c.2801A>G ENSP00000508037.1:p.Tyr934Cys
ENST00000343523.7:c.2036A>G ENSP00000340057.4:p.Tyr679Cys
ENST00000357033.9:c.10181A>G MANE Select ENSP00000354923.3:p.Tyr3394Cys
ENST00000475732.2:n.547A>G
ENST00000619831.5:c.6149A>G ENSP00000479270.2:p.Tyr2050Cys
ENST00000620040.5:c.2801A>G ENSP00000478150.2:p.Tyr934Cys
ENST00000679641.1:c.*183A>G ENSP00000506135.1:n.*183A>G
ENST00000679706.1:c.138A>G
ENST00000680162.1:c.854A>G ENSP00000506634.1:p.Tyr285Cys
ENST00000680355.1:c.977A>G ENSP00000506257.1:p.Tyr326Cys
ENST00000680557.1:c.603+25250A>G ENSP00000505164.1:n.603+25250A>G
ENST00000680768.1:c.920A>G ENSP00000506359.1:p.Tyr307Cys
ENST00000680961.1:c.*183A>G ENSP00000506386.1:n.*183A>G
ENST00000681153.1:c.977A>G ENSP00000505124.1:p.Tyr326Cys
ENST00000681654.1:n.1111A>G
ENST00000343523.6:c.1994A>G ENSP00000340057.3:p.Tyr665Cys
ENST00000357033.8:c.10181A>G ENSP00000354923.3:p.Tyr3394Cys
ENST00000358062.6:c.3269A>G ENSP00000350765.2:p.Tyr1090Cys
ENST00000359836.5:c.2801A>G ENSP00000352894.1:p.Tyr934Cys
ENST00000361471.8:c.977A>G ENSP00000354464.4:p.Tyr326Cys
ENST00000378677.6:c.10169A>G ENSP00000367948.2:p.Tyr3390Cys
ENST00000378680.6:c.977A>G ENSP00000367951.2:p.Tyr326Cys
ENST00000378702.8:c.977A>G ENSP00000367974.4:p.Tyr326Cys
ENST00000378705.3:c.551A>G ENSP00000367977.3:p.Tyr184Cys
ENST00000378707.7:c.2801A>G ENSP00000367979.3:p.Tyr934Cys
ENST00000378723.7:c.977A>G ENSP00000367997.3:p.Tyr326Cys
ENST00000474231.5:c.2801A>G ENSP00000417123.1:p.Tyr934Cys
ENST00000475732.1:n.397A>G
ENST00000541735.5:c.2801A>G ENSP00000444119.1:p.Tyr934Cys
ENST00000619831.4:c.10166A>G ENSP00000479270.1:p.Tyr3389Cys
ENST00000620040.4:c.10178A>G ENSP00000478150.1:p.Tyr3393Cys
NM_000109.3:c.10157A>G NP_000100.2:p.Tyr3386Cys
NM_004006.2:c.10181A>G , LRG_199t1:c.10181A>G NP_003997.1:p.Tyr3394Cys
NM_004009.3:c.10169A>G NP_004000.1:p.Tyr3390Cys
NM_004010.3:c.9812A>G NP_004001.1:p.Tyr3271Cys
NM_004011.3:c.6158A>G NP_004002.2:p.Tyr2053Cys
NM_004012.3:c.6149A>G NP_004003.1:p.Tyr2050Cys
NM_004013.2:c.2801A>G NP_004004.1:p.Tyr934Cys
NM_004014.2:c.1994A>G NP_004005.1:p.Tyr665Cys
NM_004015.2:c.977A>G NP_004006.1:p.Tyr326Cys
NM_004016.2:c.977A>G NP_004007.1:p.Tyr326Cys
NM_004017.2:c.977A>G NP_004008.1:p.Tyr326Cys
NM_004018.2:c.977A>G NP_004009.1:p.Tyr326Cys
NM_004019.2:c.977A>G NP_004010.1:p.Tyr326Cys
NM_004020.3:c.2801A>G NP_004011.2:p.Tyr934Cys
NM_004021.2:c.2801A>G NP_004012.1:p.Tyr934Cys
NM_004022.2:c.2801A>G NP_004013.1:p.Tyr934Cys
NM_004023.2:c.2801A>G NP_004014.1:p.Tyr934Cys
XM_006724468.2:c.10181A>G XP_006724531.1:p.Tyr3394Cys
XM_006724469.2:c.10157A>G XP_006724532.1:p.Tyr3386Cys
XM_006724470.2:c.10181A>G XP_006724533.1:p.Tyr3394Cys
XM_006724471.2:c.10181A>G XP_006724534.1:p.Tyr3394Cys
XM_006724472.2:c.10052A>G XP_006724535.1:p.Tyr3351Cys
XM_006724473.2:c.10043A>G XP_006724536.1:p.Tyr3348Cys
XM_006724474.2:c.10181A>G XP_006724537.1:p.Tyr3394Cys
XM_006724475.2:c.10181A>G XP_006724538.1:p.Tyr3394Cys
XM_011545467.1:c.10058A>G XP_011543769.1:p.Tyr3353Cys
XM_006724469.3:c.10157A>G XP_006724532.1:p.Tyr3386Cys
XM_006724470.3:c.10181A>G XP_006724533.1:p.Tyr3394Cys
XM_006724474.3:c.10181A>G XP_006724537.1:p.Tyr3394Cys
XM_017029328.1:c.10181A>G XP_016884817.1:p.Tyr3394Cys
XM_017029331.1:c.4355A>G XP_016884820.1:p.Tyr1452Cys
NM_000109.4:c.10157A>G NP_000100.3:p.Tyr3386Cys
NM_004006.3:c.10181A>G MANE Select NP_003997.2:p.Tyr3394Cys
NM_004011.4:c.6158A>G NP_004002.3:p.Tyr2053Cys
NM_004012.4:c.6149A>G NP_004003.2:p.Tyr2050Cys
NM_004015.3:c.977A>G NP_004006.1:p.Tyr326Cys
NM_004016.3:c.977A>G NP_004007.1:p.Tyr326Cys
NM_004017.3:c.977A>G NP_004008.1:p.Tyr326Cys
NM_004018.3:c.977A>G NP_004009.1:p.Tyr326Cys
NM_004019.3:c.977A>G NP_004010.1:p.Tyr326Cys
NM_004021.3:c.2801A>G NP_004012.2:p.Tyr934Cys
NM_004023.3:c.2801A>G NP_004014.2:p.Tyr934Cys
NM_004013.3:c.2801A>G NP_004004.2:p.Tyr934Cys
NM_004014.3:c.1994A>G NP_004005.2:p.Tyr665Cys
NM_004020.4:c.2801A>G NP_004011.3:p.Tyr934Cys
NM_004022.3:c.2801A>G NP_004013.2:p.Tyr934Cys