Canonical Allele Identifier: CA2422769917
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32364642A= , CM000685.2:g.32364642A= GRCh38
NC_000023.10:g.32382759A= , CM000685.1:g.32382759A= GRCh37
NC_000023.9:g.32292680A= NCBI36
NG_012232.1:g.979968T= , LRG_199:g.979968T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357033.9:c.5094T= MANE Select ENSP00000354923.3:p.Ala1698=
ENST00000619831.5:c.1062T= ENSP00000479270.2:p.Ala354=
ENST00000357033.8:c.5094T= ENSP00000354923.3:p.Ala1698=
ENST00000378677.6:c.5082T= ENSP00000367948.2:p.Ala1694=
ENST00000488902.5:n.336-147579T=
ENST00000619831.4:c.5082T= ENSP00000479270.1:p.Ala1694=
ENST00000620040.4:c.5094T= ENSP00000478150.1:p.Ala1698=
NM_000109.3:c.5070T= NP_000100.2:p.Ala1690=
NM_004006.2:c.5094T= , LRG_199t1:c.5094T= NP_003997.1:p.Ala1698=
NM_004009.3:c.5082T= NP_004000.1:p.Ala1694=
NM_004010.3:c.4725T= NP_004001.1:p.Ala1575=
NM_004011.3:c.1071T= NP_004002.2:p.Ala357=
NM_004012.3:c.1062T= NP_004003.1:p.Ala354=
XM_006724468.2:c.5094T= XP_006724531.1:p.Ala1698=
XM_006724469.2:c.5070T= XP_006724532.1:p.Ala1690=
XM_006724470.2:c.5094T= XP_006724533.1:p.Ala1698=
XM_006724471.2:c.5094T= XP_006724534.1:p.Ala1698=
XM_006724472.2:c.4965T= XP_006724535.1:p.Ala1655=
XM_006724473.2:c.5094T= XP_006724536.1:p.Ala1698=
XM_006724474.2:c.5094T= XP_006724537.1:p.Ala1698=
XM_006724475.2:c.5094T= XP_006724538.1:p.Ala1698=
XM_011545467.1:c.5094T= XP_011543769.1:p.Ala1698=
XM_011545468.1:c.5094T= XP_011543770.1:p.Ala1698=
XM_011545469.1:c.5094T= XP_011543771.1:p.Ala1698=
XM_006724469.3:c.5070T= XP_006724532.1:p.Ala1690=
XM_006724470.3:c.5094T= XP_006724533.1:p.Ala1698=
XM_006724474.3:c.5094T= XP_006724537.1:p.Ala1698=
XM_011545468.2:c.5094T= XP_011543770.1:p.Ala1698=
XM_017029328.1:c.5094T= XP_016884817.1:p.Ala1698=
XM_017029329.1:c.5094T= XP_016884818.1:p.Ala1698=
XM_017029330.2:c.5094T= XP_016884819.1:p.Ala1698=
NM_000109.4:c.5070T= NP_000100.3:p.Ala1690=
NM_004006.3:c.5094T= MANE Select NP_003997.2:p.Ala1698=
NM_004011.4:c.1071T= NP_004002.3:p.Ala357=
NM_004012.4:c.1062T= NP_004003.2:p.Ala354=