Canonical Allele Identifier: CA412648793
Community Standard Title: NM_004006.3(DMD):c.9667G>T (p.Ala3223Ser)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31204101C>A , CM000685.2:g.31204101C>A GRCh38
NC_000023.10:g.31222218C>A , CM000685.1:g.31222218C>A GRCh37
NC_000023.9:g.31132139C>A NCBI36
NG_012232.1:g.2140509G>T , LRG_199:g.2140509G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.9667G>T MANE Select NP_003997.2:p.Ala3223Ser
ENST00000357033.9:c.9667G>T MANE Select ENSP00000354923.3:p.Ala3223Ser
NM_000109.3:c.9643G>T NP_000100.2:p.Ala3215Ser
NM_000109.4:c.9643G>T NP_000100.3:p.Ala3215Ser
NM_004006.2:c.9667G>T , LRG_199t1:c.9667G>T NP_003997.1:p.Ala3223Ser
NM_004009.3:c.9655G>T NP_004000.1:p.Ala3219Ser
NM_004010.3:c.9298G>T NP_004001.1:p.Ala3100Ser
NM_004011.3:c.5644G>T NP_004002.2:p.Ala1882Ser
NM_004011.4:c.5644G>T NP_004002.3:p.Ala1882Ser
NM_004012.3:c.5635G>T NP_004003.1:p.Ala1879Ser
NM_004012.4:c.5635G>T NP_004003.2:p.Ala1879Ser
NM_004013.2:c.2287G>T NP_004004.1:p.Ala763Ser
NM_004013.3:c.2287G>T NP_004004.2:p.Ala763Ser
NM_004014.2:c.1480G>T NP_004005.1:p.Ala494Ser
NM_004014.3:c.1480G>T NP_004005.2:p.Ala494Ser
NM_004015.2:c.463G>T NP_004006.1:p.Ala155Ser
NM_004015.3:c.463G>T NP_004006.1:p.Ala155Ser
NM_004016.2:c.463G>T NP_004007.1:p.Ala155Ser
NM_004016.3:c.463G>T NP_004007.1:p.Ala155Ser
NM_004017.2:c.463G>T NP_004008.1:p.Ala155Ser
NM_004017.3:c.463G>T NP_004008.1:p.Ala155Ser
NM_004018.2:c.463G>T NP_004009.1:p.Ala155Ser
NM_004018.3:c.463G>T NP_004009.1:p.Ala155Ser
NM_004019.2:c.463G>T NP_004010.1:p.Ala155Ser
NM_004019.3:c.463G>T NP_004010.1:p.Ala155Ser
NM_004020.3:c.2287G>T NP_004011.2:p.Ala763Ser
NM_004020.4:c.2287G>T NP_004011.3:p.Ala763Ser
NM_004021.2:c.2287G>T NP_004012.1:p.Ala763Ser
NM_004021.3:c.2287G>T NP_004012.2:p.Ala763Ser
NM_004022.2:c.2287G>T NP_004013.1:p.Ala763Ser
NM_004022.3:c.2287G>T NP_004013.2:p.Ala763Ser
NM_004023.2:c.2287G>T NP_004014.1:p.Ala763Ser
NM_004023.3:c.2287G>T NP_004014.2:p.Ala763Ser
ENST00000343523.6:c.1480G>T ENSP00000340057.3:p.Ala494Ser
ENST00000343523.7:c.1522G>T ENSP00000340057.4:p.Ala508Ser
ENST00000357033.8:c.9667G>T ENSP00000354923.3:p.Ala3223Ser
ENST00000358062.6:c.2755G>T ENSP00000350765.2:p.Ala919Ser
ENST00000358062.7:c.4513G>T ENSP00000350765.3:p.Ala1505Ser
ENST00000359836.5:c.2287G>T ENSP00000352894.1:p.Ala763Ser
ENST00000361471.8:c.463G>T ENSP00000354464.4:p.Ala155Ser
ENST00000378677.6:c.9655G>T ENSP00000367948.2:p.Ala3219Ser
ENST00000378680.6:c.463G>T ENSP00000367951.2:p.Ala155Ser
ENST00000378702.8:c.463G>T ENSP00000367974.4:p.Ala155Ser
ENST00000378705.3:c.37G>T ENSP00000367977.3:p.Ala13Ser
ENST00000378707.7:c.2287G>T ENSP00000367979.3:p.Ala763Ser
ENST00000378723.7:c.463G>T ENSP00000367997.3:p.Ala155Ser
ENST00000474231.5:c.2287G>T ENSP00000417123.1:p.Ala763Ser
ENST00000541735.5:c.2287G>T ENSP00000444119.1:p.Ala763Ser
ENST00000619831.4:c.9652G>T ENSP00000479270.1:p.Ala3218Ser
ENST00000619831.5:c.5635G>T ENSP00000479270.2:p.Ala1879Ser
ENST00000620040.4:c.9664G>T ENSP00000478150.1:p.Ala3222Ser
ENST00000620040.5:c.2287G>T ENSP00000478150.2:p.Ala763Ser
ENST00000679641.1:c.463G>T ENSP00000506135.1:p.Ala155Ser
ENST00000680162.1:c.340G>T ENSP00000506634.1:p.Ala114Ser
ENST00000680162.2:c.463G>T ENSP00000506634.2:p.Ala155Ser
ENST00000680355.1:c.463G>T ENSP00000506257.1:p.Ala155Ser
ENST00000680557.1:c.463G>T ENSP00000505164.1:p.Ala155Ser
ENST00000680768.1:c.406G>T ENSP00000506359.1:p.Ala136Ser
ENST00000680768.2:c.463G>T ENSP00000506359.2:p.Ala155Ser
ENST00000680961.1:c.2287G>T ENSP00000506386.1:p.Ala763Ser
ENST00000681153.1:c.463G>T ENSP00000505124.1:p.Ala155Ser
ENST00000681334.1:c.463G>T ENSP00000506066.1:p.Ala155Ser
ENST00000681654.1:n.597G>T
ENST00000681989.1:n.465G>T
ENST00000682238.1:c.2287G>T ENSP00000508124.1:p.Ala763Ser
ENST00000682322.1:c.463G>T ENSP00000507690.1:p.Ala155Ser
ENST00000682600.1:c.463G>T ENSP00000507640.1:p.Ala155Ser
ENST00000682769.1:n.465G>T
ENST00000683509.1:n.1184G>T
ENST00000683675.1:n.766G>T
ENST00000683709.1:n.1185G>T
ENST00000683957.1:n.3159G>T
ENST00000684130.1:c.2287G>T ENSP00000508037.1:p.Ala763Ser
XM_006724468.2:c.9667G>T XP_006724531.1:p.Ala3223Ser
XM_006724469.2:c.9643G>T XP_006724532.1:p.Ala3215Ser
XM_006724469.3:c.9643G>T XP_006724532.1:p.Ala3215Ser
XM_006724470.2:c.9667G>T XP_006724533.1:p.Ala3223Ser
XM_006724470.3:c.9667G>T XP_006724533.1:p.Ala3223Ser
XM_006724471.2:c.9667G>T XP_006724534.1:p.Ala3223Ser
XM_006724472.2:c.9538G>T XP_006724535.1:p.Ala3180Ser
XM_006724473.2:c.9529G>T XP_006724536.1:p.Ala3177Ser
XM_006724474.2:c.9667G>T XP_006724537.1:p.Ala3223Ser
XM_006724474.3:c.9667G>T XP_006724537.1:p.Ala3223Ser
XM_006724475.2:c.9667G>T XP_006724538.1:p.Ala3223Ser
XM_011545467.1:c.9544G>T XP_011543769.1:p.Ala3182Ser
XM_011545468.1:c.9667G>T XP_011543770.1:p.Ala3223Ser
XM_011545468.2:c.9667G>T XP_011543770.1:p.Ala3223Ser
XM_017029328.1:c.9667G>T XP_016884817.1:p.Ala3223Ser
XM_017029331.1:c.3841G>T XP_016884820.1:p.Ala1281Ser