Canonical Allele Identifier: CA222556
Community Standard Title: NM_004006.3(DMD):c.9896A>G (p.His3299Arg)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31182816T>C , CM000685.2:g.31182816T>C GRCh38
NC_000023.10:g.31200933T>C , CM000685.1:g.31200933T>C GRCh37
NC_000023.9:g.31110854T>C NCBI36
NG_012232.1:g.2161794A>G , LRG_199:g.2161794A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.9896A>G MANE Select NP_003997.2:p.His3299Arg
ENST00000357033.9:c.9896A>G MANE Select ENSP00000354923.3:p.His3299Arg
NM_000109.3:c.9872A>G NP_000100.2:p.His3291Arg
NM_000109.4:c.9872A>G NP_000100.3:p.His3291Arg
NM_004006.2:c.9896A>G , LRG_199t1:c.9896A>G NP_003997.1:p.His3299Arg
NM_004009.3:c.9884A>G NP_004000.1:p.His3295Arg
NM_004010.3:c.9527A>G NP_004001.1:p.His3176Arg
NM_004011.3:c.5873A>G NP_004002.2:p.His1958Arg
NM_004011.4:c.5873A>G NP_004002.3:p.His1958Arg
NM_004012.3:c.5864A>G NP_004003.1:p.His1955Arg
NM_004012.4:c.5864A>G NP_004003.2:p.His1955Arg
NM_004013.2:c.2516A>G NP_004004.1:p.His839Arg
NM_004013.3:c.2516A>G NP_004004.2:p.His839Arg
NM_004014.2:c.1709A>G NP_004005.1:p.His570Arg
NM_004014.3:c.1709A>G NP_004005.2:p.His570Arg
NM_004015.2:c.692A>G NP_004006.1:p.His231Arg
NM_004015.3:c.692A>G NP_004006.1:p.His231Arg
NM_004016.2:c.692A>G NP_004007.1:p.His231Arg
NM_004016.3:c.692A>G NP_004007.1:p.His231Arg
NM_004017.2:c.692A>G NP_004008.1:p.His231Arg
NM_004017.3:c.692A>G NP_004008.1:p.His231Arg
NM_004018.2:c.692A>G NP_004009.1:p.His231Arg
NM_004018.3:c.692A>G NP_004009.1:p.His231Arg
NM_004019.2:c.692A>G NP_004010.1:p.His231Arg
NM_004019.3:c.692A>G NP_004010.1:p.His231Arg
NM_004020.3:c.2516A>G NP_004011.2:p.His839Arg
NM_004020.4:c.2516A>G NP_004011.3:p.His839Arg
NM_004021.2:c.2516A>G NP_004012.1:p.His839Arg
NM_004021.3:c.2516A>G NP_004012.2:p.His839Arg
NM_004022.2:c.2516A>G NP_004013.1:p.His839Arg
NM_004022.3:c.2516A>G NP_004013.2:p.His839Arg
NM_004023.2:c.2516A>G NP_004014.1:p.His839Arg
NM_004023.3:c.2516A>G NP_004014.2:p.His839Arg
ENST00000343523.6:c.1709A>G ENSP00000340057.3:p.His570Arg
ENST00000343523.7:c.1751A>G ENSP00000340057.4:p.His584Arg
ENST00000357033.8:c.9896A>G ENSP00000354923.3:p.His3299Arg
ENST00000358062.6:c.2984A>G ENSP00000350765.2:p.His995Arg
ENST00000358062.7:c.4742A>G ENSP00000350765.3:p.His1581Arg
ENST00000359836.5:c.2516A>G ENSP00000352894.1:p.His839Arg
ENST00000361471.8:c.692A>G ENSP00000354464.4:p.His231Arg
ENST00000378677.6:c.9884A>G ENSP00000367948.2:p.His3295Arg
ENST00000378680.6:c.692A>G ENSP00000367951.2:p.His231Arg
ENST00000378702.8:c.692A>G ENSP00000367974.4:p.His231Arg
ENST00000378705.3:c.266A>G ENSP00000367977.3:p.His89Arg
ENST00000378707.7:c.2516A>G ENSP00000367979.3:p.His839Arg
ENST00000378723.7:c.692A>G ENSP00000367997.3:p.His231Arg
ENST00000474231.5:c.2516A>G ENSP00000417123.1:p.His839Arg
ENST00000475732.1:n.112A>G
ENST00000475732.2:n.262A>G
ENST00000541735.5:c.2516A>G ENSP00000444119.1:p.His839Arg
ENST00000619831.4:c.9881A>G ENSP00000479270.1:p.His3294Arg
ENST00000619831.5:c.5864A>G ENSP00000479270.2:p.His1955Arg
ENST00000620040.4:c.9893A>G ENSP00000478150.1:p.His3298Arg
ENST00000620040.5:c.2516A>G ENSP00000478150.2:p.His839Arg
ENST00000679641.1:c.604-2335A>G ENSP00000506135.1:n.604-2335A>G
ENST00000680162.1:c.569A>G ENSP00000506634.1:p.His190Arg
ENST00000680162.2:c.692A>G ENSP00000506634.2:p.His231Arg
ENST00000680355.1:c.692A>G ENSP00000506257.1:p.His231Arg
ENST00000680557.1:c.603+21145A>G ENSP00000505164.1:n.603+21145A>G
ENST00000680768.1:c.635A>G ENSP00000506359.1:p.His212Arg
ENST00000680768.2:c.692A>G ENSP00000506359.2:p.His231Arg
ENST00000680961.1:c.2428-2335A>G ENSP00000506386.1:n.2428-2335A>G
ENST00000681153.1:c.692A>G ENSP00000505124.1:p.His231Arg
ENST00000681654.1:n.826A>G
ENST00000681989.1:n.694A>G
ENST00000682238.1:c.2516A>G ENSP00000508124.1:p.His839Arg
ENST00000682322.1:c.692A>G ENSP00000507690.1:p.His231Arg
ENST00000682600.1:c.692A>G ENSP00000507640.1:p.His231Arg
ENST00000682769.1:n.606-2335A>G
ENST00000683509.1:n.1413A>G
ENST00000683675.1:n.995A>G
ENST00000683709.1:n.1414A>G
ENST00000683957.1:n.3388A>G
ENST00000684130.1:c.2516A>G ENSP00000508037.1:p.His839Arg
XM_006724468.2:c.9896A>G XP_006724531.1:p.His3299Arg
XM_006724469.2:c.9872A>G XP_006724532.1:p.His3291Arg
XM_006724469.3:c.9872A>G XP_006724532.1:p.His3291Arg
XM_006724470.2:c.9896A>G XP_006724533.1:p.His3299Arg
XM_006724470.3:c.9896A>G XP_006724533.1:p.His3299Arg
XM_006724471.2:c.9896A>G XP_006724534.1:p.His3299Arg
XM_006724472.2:c.9767A>G XP_006724535.1:p.His3256Arg
XM_006724473.2:c.9758A>G XP_006724536.1:p.His3253Arg
XM_006724474.2:c.9896A>G XP_006724537.1:p.His3299Arg
XM_006724474.3:c.9896A>G XP_006724537.1:p.His3299Arg
XM_006724475.2:c.9896A>G XP_006724538.1:p.His3299Arg
XM_011545467.1:c.9773A>G XP_011543769.1:p.His3258Arg
XM_017029328.1:c.9896A>G XP_016884817.1:p.His3299Arg
XM_017029331.1:c.4070A>G XP_016884820.1:p.His1357Arg