Canonical Allele Identifier: CA412648758

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31146348C>G , CM000685.2:g.31146348C>G	GRCh38
NC_000023.10:g.31164465C>G , CM000685.1:g.31164465C>G	GRCh37
NC_000023.9:g.31074386C>G	NCBI36
NG_012232.1:g.2198262G>C , LRG_199:g.2198262G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10864G>C MANE Select	NP_003997.2:p.Asp3622His
ENST00000357033.9:c.10864G>C MANE Select	ENSP00000354923.3:p.Asp3622His
NM_000109.3:c.10840G>C	NP_000100.2:p.Asp3614His
NM_000109.4:c.10840G>C	NP_000100.3:p.Asp3614His
NM_004006.2:c.10864G>C , LRG_199t1:c.10864G>C	NP_003997.1:p.Asp3622His
NM_004009.3:c.10852G>C	NP_004000.1:p.Asp3618His
NM_004010.3:c.10495G>C	NP_004001.1:p.Asp3499His
NM_004011.3:c.6841G>C	NP_004002.2:p.Asp2281His
NM_004011.4:c.6841G>C	NP_004002.3:p.Asp2281His
NM_004012.3:c.6832G>C	NP_004003.1:p.Asp2278His
NM_004012.4:c.6832G>C	NP_004003.2:p.Asp2278His
NM_004013.2:c.3484G>C	NP_004004.1:p.Asp1162His
NM_004013.3:c.3484G>C	NP_004004.2:p.Asp1162His
NM_004014.2:c.2677G>C	NP_004005.1:p.Asp893His
NM_004014.3:c.2677G>C	NP_004005.2:p.Asp893His
NM_004015.2:c.1660G>C	NP_004006.1:p.Asp554His
NM_004015.3:c.1660G>C	NP_004006.1:p.Asp554His
NM_004016.2:c.1660G>C	NP_004007.1:p.Asp554His
NM_004016.3:c.1660G>C	NP_004007.1:p.Asp554His
NM_004017.2:c.1621G>C	NP_004008.1:p.Asp541His
NM_004017.3:c.1621G>C	NP_004008.1:p.Asp541His
NM_004018.2:c.1621G>C	NP_004009.1:p.Asp541His
NM_004018.3:c.1621G>C	NP_004009.1:p.Asp541His
NM_004020.3:c.3154G>C	NP_004011.2:p.Asp1052His
NM_004020.4:c.3154G>C	NP_004011.3:p.Asp1052His
NM_004021.2:c.3484G>C	NP_004012.1:p.Asp1162His
NM_004021.3:c.3484G>C	NP_004012.2:p.Asp1162His
NM_004022.2:c.3445G>C	NP_004013.1:p.Asp1149His
NM_004022.3:c.3445G>C	NP_004013.2:p.Asp1149His
NM_004023.2:c.3154G>C	NP_004014.1:p.Asp1052His
NM_004023.3:c.3154G>C	NP_004014.2:p.Asp1052His
ENST00000343523.6:c.2677G>C	ENSP00000340057.3:p.Asp893His
ENST00000343523.7:c.2719G>C	ENSP00000340057.4:p.Asp907His
ENST00000357033.8:c.10864G>C	ENSP00000354923.3:p.Asp3622His
ENST00000358062.6:c.3913G>C	ENSP00000350765.2:p.Asp1305His
ENST00000358062.7:c.5671G>C	ENSP00000350765.3:p.Asp1891His
ENST00000359836.5:c.3445G>C	ENSP00000352894.1:p.Asp1149His
ENST00000361471.8:c.1621G>C	ENSP00000354464.4:p.Asp541His
ENST00000378677.6:c.10852G>C	ENSP00000367948.2:p.Asp3618His
ENST00000378680.6:c.1330G>C	ENSP00000367951.2:p.Asp444His
ENST00000378702.8:c.1660G>C	ENSP00000367974.4:p.Asp554His
ENST00000378707.7:c.3484G>C	ENSP00000367979.3:p.Asp1162His
ENST00000378723.7:c.1660G>C	ENSP00000367997.3:p.Asp554His
ENST00000474231.5:c.3484G>C	ENSP00000417123.1:p.Asp1162His
ENST00000481143.2:n.114+23095G>C
ENST00000541735.5:c.3154G>C	ENSP00000444119.1:p.Asp1052His
ENST00000619831.4:c.10849G>C	ENSP00000479270.1:p.Asp3617His
ENST00000619831.5:c.6832G>C	ENSP00000479270.2:p.Asp2278His
ENST00000620040.4:c.10861G>C	ENSP00000478150.1:p.Asp3621His
ENST00000620040.5:c.3335+970G>C	ENSP00000478150.2:n.3335+970G>C
ENST00000679437.1:c.526G>C	ENSP00000506629.1:p.Asp176His
ENST00000679641.1:c.*536G>C	ENSP00000506135.1:n.*536G>C
ENST00000679706.1:c.491G>C
ENST00000679850.1:n.5875G>C
ENST00000680162.1:c.1537G>C	ENSP00000506634.1:p.Asp513His
ENST00000680162.2:c.1555G>C	ENSP00000506634.2:p.Asp519His
ENST00000680355.1:c.1330G>C	ENSP00000506257.1:p.Asp444His
ENST00000680557.1:c.604-12154G>C	ENSP00000505164.1:n.604-12154G>C
ENST00000680701.1:n.639G>C
ENST00000680768.1:c.1564G>C	ENSP00000506359.1:p.Asp522His
ENST00000680768.2:c.1561G>C	ENSP00000506359.2:p.Asp521His
ENST00000680961.1:c.*827G>C	ENSP00000506386.1:n.*827G>C
ENST00000681026.1:c.526G>C	ENSP00000506689.1:p.Asp176His
ENST00000681153.1:c.1621G>C	ENSP00000505124.1:p.Asp541His
ENST00000681989.1:n.1662G>C
ENST00000682207.1:n.984G>C
ENST00000682238.1:c.3154G>C	ENSP00000508124.1:p.Asp1052His
ENST00000682322.1:c.1555G>C	ENSP00000507690.1:p.Asp519His
ENST00000682600.1:c.1621G>C	ENSP00000507640.1:p.Asp541His
ENST00000682746.1:n.254G>C
ENST00000682769.1:n.1456G>C
ENST00000683503.1:n.2679G>C
ENST00000683509.1:n.2342G>C
ENST00000683675.1:n.1963G>C
ENST00000683709.1:n.2343G>C
ENST00000683995.1:n.1009G>C
ENST00000684072.1:n.1093G>C
ENST00000684103.1:n.1272G>C
ENST00000684130.1:c.3445G>C	ENSP00000508037.1:p.Asp1149His
ENST00000684247.1:n.336G>C
ENST00000684342.1:n.1908G>C
ENST00000684350.1:n.2679G>C
XM_006724468.2:c.10864G>C	XP_006724531.1:p.Asp3622His
XM_006724469.2:c.10840G>C	XP_006724532.1:p.Asp3614His
XM_006724469.3:c.10840G>C	XP_006724532.1:p.Asp3614His
XM_006724470.2:c.10825G>C	XP_006724533.1:p.Asp3609His
XM_006724470.3:c.10825G>C	XP_006724533.1:p.Asp3609His
XM_006724471.2:c.10759G>C	XP_006724534.1:p.Asp3587His
XM_006724472.2:c.10735G>C	XP_006724535.1:p.Asp3579His
XM_006724473.2:c.10726G>C	XP_006724536.1:p.Asp3576His
XM_006724474.2:c.10534G>C	XP_006724537.1:p.Asp3512His
XM_006724474.3:c.10534G>C	XP_006724537.1:p.Asp3512His
XM_006724475.2:c.10534G>C	XP_006724538.1:p.Asp3512His
XM_011545467.1:c.10741G>C	XP_011543769.1:p.Asp3581His
XM_017029328.1:c.10825G>C	XP_016884817.1:p.Asp3609His
XM_017029331.1:c.5038G>C	XP_016884820.1:p.Asp1680His