Canonical Allele Identifier: CA2422434056

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444566C= , CM000685.2:g.31444566C=	GRCh38
NC_000023.10:g.31462683C= , CM000685.1:g.31462683C=	GRCh37
NC_000023.9:g.31372604C=	NCBI36
NG_012232.1:g.1900044G= , LRG_199:g.1900044G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3845G=	ENSP00000350765.3:p.Arg1282=
ENST00000682238.1:c.1619G=	ENSP00000508124.1:p.Arg540=
ENST00000683450.1:n.2464G=
ENST00000683957.1:n.2491G=
ENST00000684130.1:c.1619G=	ENSP00000508037.1:p.Arg540=
ENST00000343523.7:c.854G=	ENSP00000340057.4:p.Arg285=
ENST00000357033.9:c.8999G= MANE Select	ENSP00000354923.3:p.Arg3000=
ENST00000619831.5:c.4967G=	ENSP00000479270.2:p.Arg1656=
ENST00000620040.5:c.1619G=	ENSP00000478150.2:p.Arg540=
ENST00000680961.1:c.1619G=	ENSP00000506386.1:p.Arg540=
ENST00000681646.1:n.2660G=
ENST00000343523.6:c.812G=	ENSP00000340057.3:p.Arg271=
ENST00000357033.8:c.8999G=	ENSP00000354923.3:p.Arg3000=
ENST00000358062.6:c.2087G=	ENSP00000350765.2:p.Arg696=
ENST00000359836.5:c.1619G=	ENSP00000352894.1:p.Arg540=
ENST00000378677.6:c.8987G=	ENSP00000367948.2:p.Arg2996=
ENST00000378707.7:c.1619G=	ENSP00000367979.3:p.Arg540=
ENST00000474231.5:c.1619G=	ENSP00000417123.1:p.Arg540=
ENST00000541735.5:c.1619G=	ENSP00000444119.1:p.Arg540=
ENST00000619831.4:c.8984G=	ENSP00000479270.1:p.Arg2995=
ENST00000620040.4:c.8996G=	ENSP00000478150.1:p.Arg2999=
NM_000109.3:c.8975G=	NP_000100.2:p.Arg2992=
NM_004006.2:c.8999G= , LRG_199t1:c.8999G=	NP_003997.1:p.Arg3000=
NM_004009.3:c.8987G=	NP_004000.1:p.Arg2996=
NM_004010.3:c.8630G=	NP_004001.1:p.Arg2877=
NM_004011.3:c.4976G=	NP_004002.2:p.Arg1659=
NM_004012.3:c.4967G=	NP_004003.1:p.Arg1656=
NM_004013.2:c.1619G=	NP_004004.1:p.Arg540=
NM_004014.2:c.812G=	NP_004005.1:p.Arg271=
NM_004020.3:c.1619G=	NP_004011.2:p.Arg540=
NM_004021.2:c.1619G=	NP_004012.1:p.Arg540=
NM_004022.2:c.1619G=	NP_004013.1:p.Arg540=
NM_004023.2:c.1619G=	NP_004014.1:p.Arg540=
XM_006724468.2:c.8999G=	XP_006724531.1:p.Arg3000=
XM_006724469.2:c.8975G=	XP_006724532.1:p.Arg2992=
XM_006724470.2:c.8999G=	XP_006724533.1:p.Arg3000=
XM_006724471.2:c.8999G=	XP_006724534.1:p.Arg3000=
XM_006724472.2:c.8870G=	XP_006724535.1:p.Arg2957=
XM_006724473.2:c.8861G=	XP_006724536.1:p.Arg2954=
XM_006724474.2:c.8999G=	XP_006724537.1:p.Arg3000=
XM_006724475.2:c.8999G=	XP_006724538.1:p.Arg3000=
XM_011545467.1:c.8876G=	XP_011543769.1:p.Arg2959=
XM_011545468.1:c.8999G=	XP_011543770.1:p.Arg3000=
XM_006724469.3:c.8975G=	XP_006724532.1:p.Arg2992=
XM_006724470.3:c.8999G=	XP_006724533.1:p.Arg3000=
XM_006724474.3:c.8999G=	XP_006724537.1:p.Arg3000=
XM_011545468.2:c.8999G=	XP_011543770.1:p.Arg3000=
XM_017029328.1:c.8999G=	XP_016884817.1:p.Arg3000=
XM_017029331.1:c.3173G=	XP_016884820.1:p.Arg1058=
NM_000109.4:c.8975G=	NP_000100.3:p.Arg2992=
NM_004006.3:c.8999G= MANE Select	NP_003997.2:p.Arg3000=
NM_004011.4:c.4976G=	NP_004002.3:p.Arg1659=
NM_004012.4:c.4967G=	NP_004003.2:p.Arg1656=
NM_004021.3:c.1619G=	NP_004012.2:p.Arg540=
NM_004023.3:c.1619G=	NP_004014.2:p.Arg540=
NM_004013.3:c.1619G=	NP_004004.2:p.Arg540=
NM_004014.3:c.812G=	NP_004005.2:p.Arg271=
NM_004020.4:c.1619G=	NP_004011.3:p.Arg540=
NM_004022.3:c.1619G=	NP_004013.2:p.Arg540=