Canonical Allele Identifier: CA3065189097
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31209627A= , CM000685.2:g.31209627A= GRCh38
NC_000023.10:g.31227744A= , CM000685.1:g.31227744A= GRCh37
NC_000023.9:g.31137665A= NCBI36
NG_012232.1:g.2134983T= , LRG_199:g.2134983T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.4280T= ENSP00000350765.3:p.Met1427=
ENST00000680162.2:c.230T= ENSP00000506634.2:p.Met77=
ENST00000680768.2:c.230T= ENSP00000506359.2:p.Met77=
ENST00000681989.1:n.232T=
ENST00000682238.1:c.2054T= ENSP00000508124.1:p.Met685=
ENST00000682322.1:c.230T= ENSP00000507690.1:p.Met77=
ENST00000682600.1:c.230T= ENSP00000507640.1:p.Met77=
ENST00000682769.1:n.232T=
ENST00000683509.1:n.951T=
ENST00000683675.1:n.533T=
ENST00000683709.1:n.952T=
ENST00000683957.1:n.2926T=
ENST00000684130.1:c.2054T= ENSP00000508037.1:p.Met685=
ENST00000343523.7:c.1289T= ENSP00000340057.4:p.Met430=
ENST00000357033.9:c.9434T= MANE Select ENSP00000354923.3:p.Met3145=
ENST00000619831.5:c.5402T= ENSP00000479270.2:p.Met1801=
ENST00000620040.5:c.2054T= ENSP00000478150.2:p.Met685=
ENST00000679641.1:c.230T= ENSP00000506135.1:p.Met77=
ENST00000680162.1:c.107T= ENSP00000506634.1:p.Met36=
ENST00000680355.1:c.230T= ENSP00000506257.1:p.Met77=
ENST00000680557.1:c.230T= ENSP00000505164.1:p.Met77=
ENST00000680768.1:c.173T= ENSP00000506359.1:p.Met58=
ENST00000680961.1:c.2054T= ENSP00000506386.1:p.Met685=
ENST00000681153.1:c.230T= ENSP00000505124.1:p.Met77=
ENST00000681334.1:c.230T= ENSP00000506066.1:p.Met77=
ENST00000681654.1:n.364T=
ENST00000343523.6:c.1247T= ENSP00000340057.3:p.Met416=
ENST00000357033.8:c.9434T= ENSP00000354923.3:p.Met3145=
ENST00000358062.6:c.2522T= ENSP00000350765.2:p.Met841=
ENST00000359836.5:c.2054T= ENSP00000352894.1:p.Met685=
ENST00000361471.8:c.230T= ENSP00000354464.4:p.Met77=
ENST00000378677.6:c.9422T= ENSP00000367948.2:p.Met3141=
ENST00000378680.6:c.230T= ENSP00000367951.2:p.Met77=
ENST00000378702.8:c.230T= ENSP00000367974.4:p.Met77=
ENST00000378707.7:c.2054T= ENSP00000367979.3:p.Met685=
ENST00000378723.7:c.230T= ENSP00000367997.3:p.Met77=
ENST00000469142.1:n.453T=
ENST00000474231.5:c.2054T= ENSP00000417123.1:p.Met685=
ENST00000541735.5:c.2054T= ENSP00000444119.1:p.Met685=
ENST00000619831.4:c.9419T= ENSP00000479270.1:p.Met3140=
ENST00000620040.4:c.9431T= ENSP00000478150.1:p.Met3144=
NM_000109.3:c.9410T= NP_000100.2:p.Met3137=
NM_004006.2:c.9434T= , LRG_199t1:c.9434T= NP_003997.1:p.Met3145=
NM_004009.3:c.9422T= NP_004000.1:p.Met3141=
NM_004010.3:c.9065T= NP_004001.1:p.Met3022=
NM_004011.3:c.5411T= NP_004002.2:p.Met1804=
NM_004012.3:c.5402T= NP_004003.1:p.Met1801=
NM_004013.2:c.2054T= NP_004004.1:p.Met685=
NM_004014.2:c.1247T= NP_004005.1:p.Met416=
NM_004015.2:c.230T= NP_004006.1:p.Met77=
NM_004016.2:c.230T= NP_004007.1:p.Met77=
NM_004017.2:c.230T= NP_004008.1:p.Met77=
NM_004018.2:c.230T= NP_004009.1:p.Met77=
NM_004019.2:c.230T= NP_004010.1:p.Met77=
NM_004020.3:c.2054T= NP_004011.2:p.Met685=
NM_004021.2:c.2054T= NP_004012.1:p.Met685=
NM_004022.2:c.2054T= NP_004013.1:p.Met685=
NM_004023.2:c.2054T= NP_004014.1:p.Met685=
XM_006724468.2:c.9434T= XP_006724531.1:p.Met3145=
XM_006724469.2:c.9410T= XP_006724532.1:p.Met3137=
XM_006724470.2:c.9434T= XP_006724533.1:p.Met3145=
XM_006724471.2:c.9434T= XP_006724534.1:p.Met3145=
XM_006724472.2:c.9305T= XP_006724535.1:p.Met3102=
XM_006724473.2:c.9296T= XP_006724536.1:p.Met3099=
XM_006724474.2:c.9434T= XP_006724537.1:p.Met3145=
XM_006724475.2:c.9434T= XP_006724538.1:p.Met3145=
XM_011545467.1:c.9311T= XP_011543769.1:p.Met3104=
XM_011545468.1:c.9434T= XP_011543770.1:p.Met3145=
XM_006724469.3:c.9410T= XP_006724532.1:p.Met3137=
XM_006724470.3:c.9434T= XP_006724533.1:p.Met3145=
XM_006724474.3:c.9434T= XP_006724537.1:p.Met3145=
XM_011545468.2:c.9434T= XP_011543770.1:p.Met3145=
XM_017029328.1:c.9434T= XP_016884817.1:p.Met3145=
XM_017029331.1:c.3608T= XP_016884820.1:p.Met1203=
NM_000109.4:c.9410T= NP_000100.3:p.Met3137=
NM_004006.3:c.9434T= MANE Select NP_003997.2:p.Met3145=
NM_004011.4:c.5411T= NP_004002.3:p.Met1804=
NM_004012.4:c.5402T= NP_004003.2:p.Met1801=
NM_004015.3:c.230T= NP_004006.1:p.Met77=
NM_004016.3:c.230T= NP_004007.1:p.Met77=
NM_004017.3:c.230T= NP_004008.1:p.Met77=
NM_004018.3:c.230T= NP_004009.1:p.Met77=
NM_004019.3:c.230T= NP_004010.1:p.Met77=
NM_004021.3:c.2054T= NP_004012.2:p.Met685=
NM_004023.3:c.2054T= NP_004014.2:p.Met685=
NM_004013.3:c.2054T= NP_004004.2:p.Met685=
NM_004014.3:c.1247T= NP_004005.2:p.Met416=
NM_004020.4:c.2054T= NP_004011.3:p.Met685=
NM_004022.3:c.2054T= NP_004013.2:p.Met685=