Canonical Allele Identifier: CA2422815839
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32464689T= , CM000685.2:g.32464689T= GRCh38
NC_000023.10:g.32482806T= , CM000685.1:g.32482806T= GRCh37
NC_000023.9:g.32392727T= NCBI36
NG_012232.1:g.879921A= , LRG_199:g.879921A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682899.1:n.3380A=
ENST00000357033.9:c.3173A= MANE Select ENSP00000354923.3:p.Gln1058=
ENST00000357033.8:c.3173A= ENSP00000354923.3:p.Gln1058=
ENST00000378677.6:c.3161A= ENSP00000367948.2:p.Gln1054=
ENST00000420596.5:c.94-99490A= ENSP00000399897.1:n.94-99490A=
ENST00000448370.5:c.94-99979A= ENSP00000388559.1:n.94-99979A=
ENST00000488902.5:n.336-247626A=
ENST00000619831.4:c.3161A= ENSP00000479270.1:p.Gln1054=
ENST00000620040.4:c.3173A= ENSP00000478150.1:p.Gln1058=
NM_000109.3:c.3149A= NP_000100.2:p.Gln1050=
NM_004006.2:c.3173A= , LRG_199t1:c.3173A= NP_003997.1:p.Gln1058=
NM_004009.3:c.3161A= NP_004000.1:p.Gln1054=
NM_004010.3:c.2804A= NP_004001.1:p.Gln935=
XM_006724468.2:c.3173A= XP_006724531.1:p.Gln1058=
XM_006724469.2:c.3149A= XP_006724532.1:p.Gln1050=
XM_006724470.2:c.3173A= XP_006724533.1:p.Gln1058=
XM_006724471.2:c.3173A= XP_006724534.1:p.Gln1058=
XM_006724472.2:c.3044A= XP_006724535.1:p.Gln1015=
XM_006724473.2:c.3173A= XP_006724536.1:p.Gln1058=
XM_006724474.2:c.3173A= XP_006724537.1:p.Gln1058=
XM_006724475.2:c.3173A= XP_006724538.1:p.Gln1058=
XM_011545467.1:c.3173A= XP_011543769.1:p.Gln1058=
XM_011545468.1:c.3173A= XP_011543770.1:p.Gln1058=
XM_011545469.1:c.3173A= XP_011543771.1:p.Gln1058=
XM_006724469.3:c.3149A= XP_006724532.1:p.Gln1050=
XM_006724470.3:c.3173A= XP_006724533.1:p.Gln1058=
XM_006724474.3:c.3173A= XP_006724537.1:p.Gln1058=
XM_011545468.2:c.3173A= XP_011543770.1:p.Gln1058=
XM_017029328.1:c.3173A= XP_016884817.1:p.Gln1058=
XM_017029329.1:c.3173A= XP_016884818.1:p.Gln1058=
XM_017029330.2:c.3173A= XP_016884819.1:p.Gln1058=
NM_000109.4:c.3149A= NP_000100.3:p.Gln1050=
NM_004006.3:c.3173A= MANE Select NP_003997.2:p.Gln1058=