Canonical Allele Identifier: CA412666525
Gene: DMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32343284A>C , CM000685.2:g.32343284A>C GRCh38
NC_000023.10:g.32361401A>C , CM000685.1:g.32361401A>C GRCh37
NC_000023.9:g.32271322A>C NCBI36
NG_012232.1:g.1001326T>G , LRG_199:g.1001326T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.435T>G ENSP00000350765.3:p.Asp145Glu
ENST00000357033.9:c.5589T>G MANE Select ENSP00000354923.3:p.Asp1863Glu
ENST00000619831.5:c.1557T>G ENSP00000479270.2:p.Asp519Glu
ENST00000357033.8:c.5589T>G ENSP00000354923.3:p.Asp1863Glu
ENST00000378677.6:c.5577T>G ENSP00000367948.2:p.Asp1859Glu
ENST00000488902.5:n.336-126221T>G
ENST00000493412.1:c.246T>G ENSP00000417725.1:p.Asp82Glu
ENST00000619831.4:c.5577T>G ENSP00000479270.1:p.Asp1859Glu
ENST00000620040.4:c.5589T>G ENSP00000478150.1:p.Asp1863Glu
NM_000109.3:c.5565T>G NP_000100.2:p.Asp1855Glu
NM_004006.2:c.5589T>G , LRG_199t1:c.5589T>G NP_003997.1:p.Asp1863Glu
NM_004009.3:c.5577T>G NP_004000.1:p.Asp1859Glu
NM_004010.3:c.5220T>G NP_004001.1:p.Asp1740Glu
NM_004011.3:c.1566T>G NP_004002.2:p.Asp522Glu
NM_004012.3:c.1557T>G NP_004003.1:p.Asp519Glu
XM_006724468.2:c.5589T>G XP_006724531.1:p.Asp1863Glu
XM_006724469.2:c.5565T>G XP_006724532.1:p.Asp1855Glu
XM_006724470.2:c.5589T>G XP_006724533.1:p.Asp1863Glu
XM_006724471.2:c.5589T>G XP_006724534.1:p.Asp1863Glu
XM_006724472.2:c.5460T>G XP_006724535.1:p.Asp1820Glu
XM_006724473.2:c.5451T>G XP_006724536.1:p.Asp1817Glu
XM_006724474.2:c.5589T>G XP_006724537.1:p.Asp1863Glu
XM_006724475.2:c.5589T>G XP_006724538.1:p.Asp1863Glu
XM_011545467.1:c.5466T>G XP_011543769.1:p.Asp1822Glu
XM_011545468.1:c.5589T>G XP_011543770.1:p.Asp1863Glu
XM_011545469.1:c.5589T>G XP_011543771.1:p.Asp1863Glu
XM_006724469.3:c.5565T>G XP_006724532.1:p.Asp1855Glu
XM_006724470.3:c.5589T>G XP_006724533.1:p.Asp1863Glu
XM_006724474.3:c.5589T>G XP_006724537.1:p.Asp1863Glu
XM_011545468.2:c.5589T>G XP_011543770.1:p.Asp1863Glu
XM_017029328.1:c.5589T>G XP_016884817.1:p.Asp1863Glu
XM_017029329.1:c.5589T>G XP_016884818.1:p.Asp1863Glu
XM_017029330.2:c.5589T>G XP_016884819.1:p.Asp1863Glu
NM_000109.4:c.5565T>G NP_000100.3:p.Asp1855Glu
NM_004006.3:c.5589T>G MANE Select NP_003997.2:p.Asp1863Glu
NM_004011.4:c.1566T>G NP_004002.3:p.Asp522Glu
NM_004012.4:c.1557T>G NP_004003.2:p.Asp519Glu