Canonical Allele Identifier: CA2422815807
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32464615T= , CM000685.2:g.32464615T= GRCh38
NC_000023.10:g.32482732T= , CM000685.1:g.32482732T= GRCh37
NC_000023.9:g.32392653T= NCBI36
NG_012232.1:g.879995A= , LRG_199:g.879995A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682899.1:n.3454A=
ENST00000357033.9:c.3247A= MANE Select ENSP00000354923.3:p.Ile1083=
ENST00000357033.8:c.3247A= ENSP00000354923.3:p.Ile1083=
ENST00000378677.6:c.3235A= ENSP00000367948.2:p.Ile1079=
ENST00000420596.5:c.94-99416A= ENSP00000399897.1:n.94-99416A=
ENST00000448370.5:c.94-99905A= ENSP00000388559.1:n.94-99905A=
ENST00000488902.5:n.336-247552A=
ENST00000619831.4:c.3235A= ENSP00000479270.1:p.Ile1079=
ENST00000620040.4:c.3247A= ENSP00000478150.1:p.Ile1083=
NM_000109.3:c.3223A= NP_000100.2:p.Ile1075=
NM_004006.2:c.3247A= , LRG_199t1:c.3247A= NP_003997.1:p.Ile1083=
NM_004009.3:c.3235A= NP_004000.1:p.Ile1079=
NM_004010.3:c.2878A= NP_004001.1:p.Ile960=
XM_006724468.2:c.3247A= XP_006724531.1:p.Ile1083=
XM_006724469.2:c.3223A= XP_006724532.1:p.Ile1075=
XM_006724470.2:c.3247A= XP_006724533.1:p.Ile1083=
XM_006724471.2:c.3247A= XP_006724534.1:p.Ile1083=
XM_006724472.2:c.3118A= XP_006724535.1:p.Ile1040=
XM_006724473.2:c.3247A= XP_006724536.1:p.Ile1083=
XM_006724474.2:c.3247A= XP_006724537.1:p.Ile1083=
XM_006724475.2:c.3247A= XP_006724538.1:p.Ile1083=
XM_011545467.1:c.3247A= XP_011543769.1:p.Ile1083=
XM_011545468.1:c.3247A= XP_011543770.1:p.Ile1083=
XM_011545469.1:c.3247A= XP_011543771.1:p.Ile1083=
XM_006724469.3:c.3223A= XP_006724532.1:p.Ile1075=
XM_006724470.3:c.3247A= XP_006724533.1:p.Ile1083=
XM_006724474.3:c.3247A= XP_006724537.1:p.Ile1083=
XM_011545468.2:c.3247A= XP_011543770.1:p.Ile1083=
XM_017029328.1:c.3247A= XP_016884817.1:p.Ile1083=
XM_017029329.1:c.3247A= XP_016884818.1:p.Ile1083=
XM_017029330.2:c.3247A= XP_016884819.1:p.Ile1083=
NM_000109.4:c.3223A= NP_000100.3:p.Ile1075=
NM_004006.3:c.3247A= MANE Select NP_003997.2:p.Ile1083=