Canonical Allele Identifier: CA412652323

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31173563G>C , CM000685.2:g.31173563G>C	GRCh38
NC_000023.10:g.31191680G>C , CM000685.1:g.31191680G>C	GRCh37
NC_000023.9:g.31101601G>C	NCBI36
NG_012232.1:g.2171047C>G , LRG_199:g.2171047C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10304C>G MANE Select	NP_003997.2:p.Ser3435Ter
ENST00000357033.9:c.10304C>G MANE Select	ENSP00000354923.3:p.Ser3435Ter
NM_000109.3:c.10280C>G	NP_000100.2:p.Ser3427Ter
NM_000109.4:c.10280C>G	NP_000100.3:p.Ser3427Ter
NM_004006.2:c.10304C>G , LRG_199t1:c.10304C>G	NP_003997.1:p.Ser3435Ter
NM_004009.3:c.10292C>G	NP_004000.1:p.Ser3431Ter
NM_004010.3:c.9935C>G	NP_004001.1:p.Ser3312Ter
NM_004011.3:c.6281C>G	NP_004002.2:p.Ser2094Ter
NM_004011.4:c.6281C>G	NP_004002.3:p.Ser2094Ter
NM_004012.3:c.6272C>G	NP_004003.1:p.Ser2091Ter
NM_004012.4:c.6272C>G	NP_004003.2:p.Ser2091Ter
NM_004013.2:c.2924C>G	NP_004004.1:p.Ser975Ter
NM_004013.3:c.2924C>G	NP_004004.2:p.Ser975Ter
NM_004014.2:c.2117C>G	NP_004005.1:p.Ser706Ter
NM_004014.3:c.2117C>G	NP_004005.2:p.Ser706Ter
NM_004015.2:c.1100C>G	NP_004006.1:p.Ser367Ter
NM_004015.3:c.1100C>G	NP_004006.1:p.Ser367Ter
NM_004016.2:c.1100C>G	NP_004007.1:p.Ser367Ter
NM_004016.3:c.1100C>G	NP_004007.1:p.Ser367Ter
NM_004017.2:c.1061C>G	NP_004008.1:p.Ser354Ter
NM_004017.3:c.1061C>G	NP_004008.1:p.Ser354Ter
NM_004018.2:c.1061C>G	NP_004009.1:p.Ser354Ter
NM_004018.3:c.1061C>G	NP_004009.1:p.Ser354Ter
NM_004020.3:c.2843+5106C>G	NP_004011.2:n.2843+5106C>G
NM_004020.4:c.2843+5106C>G	NP_004011.3:n.2843+5106C>G
NM_004021.2:c.2924C>G	NP_004012.1:p.Ser975Ter
NM_004021.3:c.2924C>G	NP_004012.2:p.Ser975Ter
NM_004022.2:c.2885C>G	NP_004013.1:p.Ser962Ter
NM_004022.3:c.2885C>G	NP_004013.2:p.Ser962Ter
NM_004023.2:c.2843+5106C>G	NP_004014.1:n.2843+5106C>G
NM_004023.3:c.2843+5106C>G	NP_004014.2:n.2843+5106C>G
ENST00000343523.6:c.2117C>G	ENSP00000340057.3:p.Ser706Ter
ENST00000343523.7:c.2159C>G	ENSP00000340057.4:p.Ser720Ter
ENST00000357033.8:c.10304C>G	ENSP00000354923.3:p.Ser3435Ter
ENST00000358062.6:c.3353C>G	ENSP00000350765.2:p.Ser1118Ter
ENST00000358062.7:c.5111C>G	ENSP00000350765.3:p.Ser1704Ter
ENST00000359836.5:c.2885C>G	ENSP00000352894.1:p.Ser962Ter
ENST00000361471.8:c.1061C>G	ENSP00000354464.4:p.Ser354Ter
ENST00000378677.6:c.10292C>G	ENSP00000367948.2:p.Ser3431Ter
ENST00000378680.6:c.1019+5106C>G	ENSP00000367951.2:n.1019+5106C>G
ENST00000378702.8:c.1100C>G	ENSP00000367974.4:p.Ser367Ter
ENST00000378705.3:c.674C>G	ENSP00000367977.3:p.Ser225Ter
ENST00000378707.7:c.2924C>G	ENSP00000367979.3:p.Ser975Ter
ENST00000378723.7:c.1100C>G	ENSP00000367997.3:p.Ser367Ter
ENST00000474231.5:c.2924C>G	ENSP00000417123.1:p.Ser975Ter
ENST00000541735.5:c.2843+5106C>G	ENSP00000444119.1:n.2843+5106C>G
ENST00000619831.4:c.10289C>G	ENSP00000479270.1:p.Ser3430Ter
ENST00000619831.5:c.6272C>G	ENSP00000479270.2:p.Ser2091Ter
ENST00000620040.4:c.10301C>G	ENSP00000478150.1:p.Ser3434Ter
ENST00000620040.5:c.2885C>G	ENSP00000478150.2:p.Ser962Ter
ENST00000679437.1:c.-35C>G	ENSP00000506629.1:n.-35C>G
ENST00000679641.1:c.*225+5106C>G	ENSP00000506135.1:n.*225+5106C>G
ENST00000679706.1:c.180+5106C>G
ENST00000679850.1:n.4190C>G
ENST00000680162.1:c.977C>G	ENSP00000506634.1:p.Ser326Ter
ENST00000680162.2:c.1020-1150C>G	ENSP00000506634.2:n.1020-1150C>G
ENST00000680355.1:c.1019+5106C>G	ENSP00000506257.1:n.1019+5106C>G
ENST00000680557.1:c.603+30398C>G	ENSP00000505164.1:n.603+30398C>G
ENST00000680701.1:n.79C>G
ENST00000680768.1:c.1004C>G	ENSP00000506359.1:p.Ser335Ter
ENST00000680768.2:c.1061C>G	ENSP00000506359.2:p.Ser354Ter
ENST00000680961.1:c.*267C>G	ENSP00000506386.1:n.*267C>G
ENST00000681026.1:c.-35C>G	ENSP00000506689.1:n.-35C>G
ENST00000681153.1:c.1061C>G	ENSP00000505124.1:p.Ser354Ter
ENST00000681989.1:n.1102C>G
ENST00000682238.1:c.2843+5106C>G	ENSP00000508124.1:n.2843+5106C>G
ENST00000682322.1:c.1020-1150C>G	ENSP00000507690.1:n.1020-1150C>G
ENST00000682600.1:c.1061C>G	ENSP00000507640.1:p.Ser354Ter
ENST00000682769.1:n.896C>G
ENST00000683503.1:n.2119C>G
ENST00000683509.1:n.1782C>G
ENST00000683675.1:n.1403C>G
ENST00000683709.1:n.1783C>G
ENST00000683957.1:n.3757C>G
ENST00000684072.1:n.533C>G
ENST00000684130.1:c.2885C>G	ENSP00000508037.1:p.Ser962Ter
ENST00000684350.1:n.2119C>G
XM_006724468.2:c.10304C>G	XP_006724531.1:p.Ser3435Ter
XM_006724469.2:c.10280C>G	XP_006724532.1:p.Ser3427Ter
XM_006724469.3:c.10280C>G	XP_006724532.1:p.Ser3427Ter
XM_006724470.2:c.10265C>G	XP_006724533.1:p.Ser3422Ter
XM_006724470.3:c.10265C>G	XP_006724533.1:p.Ser3422Ter
XM_006724471.2:c.10224-1150C>G	XP_006724534.1:n.10224-1150C>G
XM_006724472.2:c.10175C>G	XP_006724535.1:p.Ser3392Ter
XM_006724473.2:c.10166C>G	XP_006724536.1:p.Ser3389Ter
XM_006724474.2:c.10223+5106C>G	XP_006724537.1:n.10223+5106C>G
XM_006724474.3:c.10223+5106C>G	XP_006724537.1:n.10223+5106C>G
XM_006724475.2:c.10223+5106C>G	XP_006724538.1:n.10223+5106C>G
XM_011545467.1:c.10181C>G	XP_011543769.1:p.Ser3394Ter
XM_017029328.1:c.10265C>G	XP_016884817.1:p.Ser3422Ter
XM_017029331.1:c.4478C>G	XP_016884820.1:p.Ser1493Ter