Canonical Allele Identifier: CA2422760362
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32342150C= , CM000685.2:g.32342150C= GRCh38
NC_000023.10:g.32360267C= , CM000685.1:g.32360267C= GRCh37
NC_000023.9:g.32270188C= NCBI36
NG_012232.1:g.1002460G= , LRG_199:g.1002460G=

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.5872G= MANE Select NP_003997.2:p.Glu1958=
ENST00000357033.9:c.5872G= MANE Select ENSP00000354923.3:p.Glu1958=
NM_000109.3:c.5848G= NP_000100.2:p.Glu1950=
NM_000109.4:c.5848G= NP_000100.3:p.Glu1950=
NM_004006.2:c.5872G= , LRG_199t1:c.5872G= NP_003997.1:p.Glu1958=
NM_004009.3:c.5860G= NP_004000.1:p.Glu1954=
NM_004010.3:c.5503G= NP_004001.1:p.Glu1835=
NM_004011.3:c.1849G= NP_004002.2:p.Glu617=
NM_004011.4:c.1849G= NP_004002.3:p.Glu617=
NM_004012.3:c.1840G= NP_004003.1:p.Glu614=
NM_004012.4:c.1840G= NP_004003.2:p.Glu614=
ENST00000357033.8:c.5872G= ENSP00000354923.3:p.Glu1958=
ENST00000358062.7:c.718G= ENSP00000350765.3:p.Glu240=
ENST00000378677.6:c.5860G= ENSP00000367948.2:p.Glu1954=
ENST00000488902.5:n.336-125087G=
ENST00000619831.4:c.5860G= ENSP00000479270.1:p.Glu1954=
ENST00000619831.5:c.1840G= ENSP00000479270.2:p.Glu614=
ENST00000620040.4:c.5872G= ENSP00000478150.1:p.Glu1958=
XM_006724468.2:c.5872G= XP_006724531.1:p.Glu1958=
XM_006724469.2:c.5848G= XP_006724532.1:p.Glu1950=
XM_006724469.3:c.5848G= XP_006724532.1:p.Glu1950=
XM_006724470.2:c.5872G= XP_006724533.1:p.Glu1958=
XM_006724470.3:c.5872G= XP_006724533.1:p.Glu1958=
XM_006724471.2:c.5872G= XP_006724534.1:p.Glu1958=
XM_006724472.2:c.5743G= XP_006724535.1:p.Glu1915=
XM_006724473.2:c.5734G= XP_006724536.1:p.Glu1912=
XM_006724474.2:c.5872G= XP_006724537.1:p.Glu1958=
XM_006724474.3:c.5872G= XP_006724537.1:p.Glu1958=
XM_006724475.2:c.5872G= XP_006724538.1:p.Glu1958=
XM_011545467.1:c.5749G= XP_011543769.1:p.Glu1917=
XM_011545468.1:c.5872G= XP_011543770.1:p.Glu1958=
XM_011545468.2:c.5872G= XP_011543770.1:p.Glu1958=
XM_017029328.1:c.5872G= XP_016884817.1:p.Glu1958=
XM_017029329.1:c.5872G= XP_016884818.1:p.Glu1958=
XM_017029330.2:c.5872G= XP_016884819.1:p.Glu1958=
XM_017029331.1:c.46G= XP_016884820.1:p.Glu16=