Canonical Allele Identifier: CA412658712
Gene: DMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31773989C>G , CM000685.2:g.31773989C>G GRCh38
NC_000023.10:g.31792106C>G , CM000685.1:g.31792106C>G GRCh37
NC_000023.9:g.31702027C>G NCBI36
NG_012232.1:g.1570621G>C , LRG_199:g.1570621G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.2359G>C ENSP00000350765.3:p.Asp787His
ENST00000682238.1:c.133G>C ENSP00000508124.1:p.Asp45His
ENST00000683117.1:n.1174G>C
ENST00000683450.1:n.1096G>C
ENST00000683851.1:n.1174G>C
ENST00000683957.1:n.1005G>C
ENST00000684130.1:c.133G>C ENSP00000508037.1:p.Asp45His
ENST00000357033.9:c.7513G>C MANE Select ENSP00000354923.3:p.Asp2505His
ENST00000619831.5:c.3481G>C ENSP00000479270.2:p.Asp1161His
ENST00000620040.5:c.133G>C ENSP00000478150.2:p.Asp45His
ENST00000680961.1:c.133G>C ENSP00000506386.1:p.Asp45His
ENST00000681646.1:n.1174G>C
ENST00000681839.1:c.502G>C ENSP00000505228.1:p.Asp168His
ENST00000357033.8:c.7513G>C ENSP00000354923.3:p.Asp2505His
ENST00000358062.6:c.601G>C ENSP00000350765.2:p.Asp201His
ENST00000359836.5:c.133G>C ENSP00000352894.1:p.Asp45His
ENST00000378677.6:c.7501G>C ENSP00000367948.2:p.Asp2501His
ENST00000378707.7:c.133G>C ENSP00000367979.3:p.Asp45His
ENST00000471779.1:c.270G>C ENSP00000417075.1:n.270G>C
ENST00000474231.5:c.133G>C ENSP00000417123.1:p.Asp45His
ENST00000541735.5:c.133G>C ENSP00000444119.1:p.Asp45His
ENST00000619831.4:c.7498G>C ENSP00000479270.1:p.Asp2500His
ENST00000620040.4:c.7510G>C ENSP00000478150.1:p.Asp2504His
NM_000109.3:c.7489G>C NP_000100.2:p.Asp2497His
NM_004006.2:c.7513G>C , LRG_199t1:c.7513G>C NP_003997.1:p.Asp2505His
NM_004009.3:c.7501G>C NP_004000.1:p.Asp2501His
NM_004010.3:c.7144G>C NP_004001.1:p.Asp2382His
NM_004011.3:c.3490G>C NP_004002.2:p.Asp1164His
NM_004012.3:c.3481G>C NP_004003.1:p.Asp1161His
NM_004013.2:c.133G>C NP_004004.1:p.Asp45His
NM_004020.3:c.133G>C NP_004011.2:p.Asp45His
NM_004021.2:c.133G>C NP_004012.1:p.Asp45His
NM_004022.2:c.133G>C NP_004013.1:p.Asp45His
NM_004023.2:c.133G>C NP_004014.1:p.Asp45His
XM_006724468.2:c.7513G>C XP_006724531.1:p.Asp2505His
XM_006724469.2:c.7489G>C XP_006724532.1:p.Asp2497His
XM_006724470.2:c.7513G>C XP_006724533.1:p.Asp2505His
XM_006724471.2:c.7513G>C XP_006724534.1:p.Asp2505His
XM_006724472.2:c.7384G>C XP_006724535.1:p.Asp2462His
XM_006724473.2:c.7375G>C XP_006724536.1:p.Asp2459His
XM_006724474.2:c.7513G>C XP_006724537.1:p.Asp2505His
XM_006724475.2:c.7513G>C XP_006724538.1:p.Asp2505His
XM_011545467.1:c.7390G>C XP_011543769.1:p.Asp2464His
XM_011545468.1:c.7513G>C XP_011543770.1:p.Asp2505His
XM_006724469.3:c.7489G>C XP_006724532.1:p.Asp2497His
XM_006724470.3:c.7513G>C XP_006724533.1:p.Asp2505His
XM_006724474.3:c.7513G>C XP_006724537.1:p.Asp2505His
XM_011545468.2:c.7513G>C XP_011543770.1:p.Asp2505His
XM_017029328.1:c.7513G>C XP_016884817.1:p.Asp2505His
XM_017029331.1:c.1687G>C XP_016884820.1:p.Asp563His
NM_000109.4:c.7489G>C NP_000100.3:p.Asp2497His
NM_004006.3:c.7513G>C MANE Select NP_003997.2:p.Asp2505His
NM_004011.4:c.3490G>C NP_004002.3:p.Asp1164His
NM_004012.4:c.3481G>C NP_004003.2:p.Asp1161His
NM_004021.3:c.133G>C NP_004012.2:p.Asp45His
NM_004023.3:c.133G>C NP_004014.2:p.Asp45His
NM_004013.3:c.133G>C NP_004004.2:p.Asp45His
NM_004020.4:c.133G>C NP_004011.3:p.Asp45His
NM_004022.3:c.133G>C NP_004013.2:p.Asp45His