Canonical Allele Identifier: CA328402772
Community Standard Title: NM_004006.3(DMD):c.10830G>A (p.Thr3610=)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31146382C>T , CM000685.2:g.31146382C>T GRCh38
NC_000023.10:g.31164499C>T , CM000685.1:g.31164499C>T GRCh37
NC_000023.9:g.31074420C>T NCBI36
NG_012232.1:g.2198228G>A , LRG_199:g.2198228G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.10830G>A MANE Select NP_003997.2:p.Thr3610=
ENST00000357033.9:c.10830G>A MANE Select ENSP00000354923.3:p.Thr3610=
NM_000109.3:c.10806G>A NP_000100.2:p.Thr3602=
NM_000109.4:c.10806G>A NP_000100.3:p.Thr3602=
NM_004006.2:c.10830G>A , LRG_199t1:c.10830G>A NP_003997.1:p.Thr3610=
NM_004009.3:c.10818G>A NP_004000.1:p.Thr3606=
NM_004010.3:c.10461G>A NP_004001.1:p.Thr3487=
NM_004011.3:c.6807G>A NP_004002.2:p.Thr2269=
NM_004011.4:c.6807G>A NP_004002.3:p.Thr2269=
NM_004012.3:c.6798G>A NP_004003.1:p.Thr2266=
NM_004012.4:c.6798G>A NP_004003.2:p.Thr2266=
NM_004013.2:c.3450G>A NP_004004.1:p.Thr1150=
NM_004013.3:c.3450G>A NP_004004.2:p.Thr1150=
NM_004014.2:c.2643G>A NP_004005.1:p.Thr881=
NM_004014.3:c.2643G>A NP_004005.2:p.Thr881=
NM_004015.2:c.1626G>A NP_004006.1:p.Thr542=
NM_004015.3:c.1626G>A NP_004006.1:p.Thr542=
NM_004016.2:c.1626G>A NP_004007.1:p.Thr542=
NM_004016.3:c.1626G>A NP_004007.1:p.Thr542=
NM_004017.2:c.1587G>A NP_004008.1:p.Thr529=
NM_004017.3:c.1587G>A NP_004008.1:p.Thr529=
NM_004018.2:c.1587G>A NP_004009.1:p.Thr529=
NM_004018.3:c.1587G>A NP_004009.1:p.Thr529=
NM_004020.3:c.3120G>A NP_004011.2:p.Thr1040=
NM_004020.4:c.3120G>A NP_004011.3:p.Thr1040=
NM_004021.2:c.3450G>A NP_004012.1:p.Thr1150=
NM_004021.3:c.3450G>A NP_004012.2:p.Thr1150=
NM_004022.2:c.3411G>A NP_004013.1:p.Thr1137=
NM_004022.3:c.3411G>A NP_004013.2:p.Thr1137=
NM_004023.2:c.3120G>A NP_004014.1:p.Thr1040=
NM_004023.3:c.3120G>A NP_004014.2:p.Thr1040=
ENST00000343523.6:c.2643G>A ENSP00000340057.3:p.Thr881=
ENST00000343523.7:c.2685G>A ENSP00000340057.4:p.Thr895=
ENST00000357033.8:c.10830G>A ENSP00000354923.3:p.Thr3610=
ENST00000358062.6:c.3879G>A ENSP00000350765.2:p.Thr1293=
ENST00000358062.7:c.5637G>A ENSP00000350765.3:p.Thr1879=
ENST00000359836.5:c.3411G>A ENSP00000352894.1:p.Thr1137=
ENST00000361471.8:c.1587G>A ENSP00000354464.4:p.Thr529=
ENST00000378677.6:c.10818G>A ENSP00000367948.2:p.Thr3606=
ENST00000378680.6:c.1296G>A ENSP00000367951.2:p.Thr432=
ENST00000378702.8:c.1626G>A ENSP00000367974.4:p.Thr542=
ENST00000378707.7:c.3450G>A ENSP00000367979.3:p.Thr1150=
ENST00000378723.7:c.1626G>A ENSP00000367997.3:p.Thr542=
ENST00000474231.5:c.3450G>A ENSP00000417123.1:p.Thr1150=
ENST00000481143.2:n.114+23061G>A
ENST00000541735.5:c.3120G>A ENSP00000444119.1:p.Thr1040=
ENST00000619831.4:c.10815G>A ENSP00000479270.1:p.Thr3605=
ENST00000619831.5:c.6798G>A ENSP00000479270.2:p.Thr2266=
ENST00000620040.4:c.10827G>A ENSP00000478150.1:p.Thr3609=
ENST00000620040.5:c.3335+936G>A ENSP00000478150.2:n.3335+936G>A
ENST00000679437.1:c.492G>A ENSP00000506629.1:p.Thr164=
ENST00000679641.1:c.*502G>A ENSP00000506135.1:n.*502G>A
ENST00000679706.1:c.457G>A
ENST00000679850.1:n.5841G>A
ENST00000680162.1:c.1503G>A ENSP00000506634.1:p.Thr501=
ENST00000680162.2:c.1521G>A ENSP00000506634.2:p.Thr507=
ENST00000680355.1:c.1296G>A ENSP00000506257.1:p.Thr432=
ENST00000680557.1:c.604-12188G>A ENSP00000505164.1:n.604-12188G>A
ENST00000680701.1:n.605G>A
ENST00000680768.1:c.1530G>A ENSP00000506359.1:p.Thr510=
ENST00000680768.2:c.1555-28G>A ENSP00000506359.2:n.1555-28G>A
ENST00000680961.1:c.*793G>A ENSP00000506386.1:n.*793G>A
ENST00000681026.1:c.492G>A ENSP00000506689.1:p.Thr164=
ENST00000681153.1:c.1587G>A ENSP00000505124.1:p.Thr529=
ENST00000681989.1:n.1628G>A
ENST00000682207.1:n.950G>A
ENST00000682238.1:c.3120G>A ENSP00000508124.1:p.Thr1040=
ENST00000682322.1:c.1521G>A ENSP00000507690.1:p.Thr507=
ENST00000682600.1:c.1587G>A ENSP00000507640.1:p.Thr529=
ENST00000682746.1:n.220G>A
ENST00000682769.1:n.1422G>A
ENST00000683503.1:n.2645G>A
ENST00000683509.1:n.2308G>A
ENST00000683675.1:n.1929G>A
ENST00000683709.1:n.2309G>A
ENST00000683995.1:n.975G>A
ENST00000684072.1:n.1059G>A
ENST00000684103.1:n.1238G>A
ENST00000684130.1:c.3411G>A ENSP00000508037.1:p.Thr1137=
ENST00000684247.1:n.302G>A
ENST00000684342.1:n.1874G>A
ENST00000684350.1:n.2645G>A
XM_006724468.2:c.10830G>A XP_006724531.1:p.Thr3610=
XM_006724469.2:c.10806G>A XP_006724532.1:p.Thr3602=
XM_006724469.3:c.10806G>A XP_006724532.1:p.Thr3602=
XM_006724470.2:c.10791G>A XP_006724533.1:p.Thr3597=
XM_006724470.3:c.10791G>A XP_006724533.1:p.Thr3597=
XM_006724471.2:c.10725G>A XP_006724534.1:p.Thr3575=
XM_006724472.2:c.10701G>A XP_006724535.1:p.Thr3567=
XM_006724473.2:c.10692G>A XP_006724536.1:p.Thr3564=
XM_006724474.2:c.10500G>A XP_006724537.1:p.Thr3500=
XM_006724474.3:c.10500G>A XP_006724537.1:p.Thr3500=
XM_006724475.2:c.10500G>A XP_006724538.1:p.Thr3500=
XM_011545467.1:c.10707G>A XP_011543769.1:p.Thr3569=
XM_017029328.1:c.10791G>A XP_016884817.1:p.Thr3597=
XM_017029331.1:c.5004G>A XP_016884820.1:p.Thr1668=