Canonical Allele Identifier: CA2422760785
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32343171G= , CM000685.2:g.32343171G= GRCh38
NC_000023.10:g.32361288G= , CM000685.1:g.32361288G= GRCh37
NC_000023.9:g.32271209G= NCBI36
NG_012232.1:g.1001439C= , LRG_199:g.1001439C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.548C= ENSP00000350765.3:p.Ala183=
ENST00000357033.9:c.5702C= MANE Select ENSP00000354923.3:p.Ala1901=
ENST00000619831.5:c.1670C= ENSP00000479270.2:p.Ala557=
ENST00000357033.8:c.5702C= ENSP00000354923.3:p.Ala1901=
ENST00000378677.6:c.5690C= ENSP00000367948.2:p.Ala1897=
ENST00000488902.5:n.336-126108C=
ENST00000493412.1:c.359C= ENSP00000417725.1:p.Ala120=
ENST00000619831.4:c.5690C= ENSP00000479270.1:p.Ala1897=
ENST00000620040.4:c.5702C= ENSP00000478150.1:p.Ala1901=
NM_000109.3:c.5678C= NP_000100.2:p.Ala1893=
NM_004006.2:c.5702C= , LRG_199t1:c.5702C= NP_003997.1:p.Ala1901=
NM_004009.3:c.5690C= NP_004000.1:p.Ala1897=
NM_004010.3:c.5333C= NP_004001.1:p.Ala1778=
NM_004011.3:c.1679C= NP_004002.2:p.Ala560=
NM_004012.3:c.1670C= NP_004003.1:p.Ala557=
XM_006724468.2:c.5702C= XP_006724531.1:p.Ala1901=
XM_006724469.2:c.5678C= XP_006724532.1:p.Ala1893=
XM_006724470.2:c.5702C= XP_006724533.1:p.Ala1901=
XM_006724471.2:c.5702C= XP_006724534.1:p.Ala1901=
XM_006724472.2:c.5573C= XP_006724535.1:p.Ala1858=
XM_006724473.2:c.5564C= XP_006724536.1:p.Ala1855=
XM_006724474.2:c.5702C= XP_006724537.1:p.Ala1901=
XM_006724475.2:c.5702C= XP_006724538.1:p.Ala1901=
XM_011545467.1:c.5579C= XP_011543769.1:p.Ala1860=
XM_011545468.1:c.5702C= XP_011543770.1:p.Ala1901=
XM_011545469.1:c.5702C= XP_011543771.1:p.Ala1901=
XM_006724469.3:c.5678C= XP_006724532.1:p.Ala1893=
XM_006724470.3:c.5702C= XP_006724533.1:p.Ala1901=
XM_006724474.3:c.5702C= XP_006724537.1:p.Ala1901=
XM_011545468.2:c.5702C= XP_011543770.1:p.Ala1901=
XM_017029328.1:c.5702C= XP_016884817.1:p.Ala1901=
XM_017029329.1:c.5702C= XP_016884818.1:p.Ala1901=
XM_017029330.2:c.5702C= XP_016884819.1:p.Ala1901=
NM_000109.4:c.5678C= NP_000100.3:p.Ala1893=
NM_004006.3:c.5702C= MANE Select NP_003997.2:p.Ala1901=
NM_004011.4:c.1679C= NP_004002.3:p.Ala560=
NM_004012.4:c.1670C= NP_004003.2:p.Ala557=