Canonical Allele Identifier: CA412652087
Community Standard Title: NM_004006.3(DMD):c.10395-1G>C
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31169602C>G , CM000685.2:g.31169602C>G GRCh38
NC_000023.10:g.31187719C>G , CM000685.1:g.31187719C>G GRCh37
NC_000023.9:g.31097640C>G NCBI36
NG_012232.1:g.2175008G>C , LRG_199:g.2175008G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.10395-1G>C MANE Select NP_003997.2:n.10395-1G>C
ENST00000357033.9:c.10395-1G>C MANE Select ENSP00000354923.3:n.10395-1G>C
NM_000109.3:c.10371-1G>C NP_000100.2:n.10371-1G>C
NM_000109.4:c.10371-1G>C NP_000100.3:n.10371-1G>C
NM_004006.2:c.10395-1G>C , LRG_199t1:c.10395-1G>C NP_003997.1:n.10395-1G>C
NM_004009.3:c.10383-1G>C NP_004000.1:n.10383-1G>C
NM_004010.3:c.10026-1G>C NP_004001.1:n.10026-1G>C
NM_004011.3:c.6372-1G>C NP_004002.2:n.6372-1G>C
NM_004011.4:c.6372-1G>C NP_004002.3:n.6372-1G>C
NM_004012.3:c.6363-1G>C NP_004003.1:n.6363-1G>C
NM_004012.4:c.6363-1G>C NP_004003.2:n.6363-1G>C
NM_004013.2:c.3015-1G>C NP_004004.1:n.3015-1G>C
NM_004013.3:c.3015-1G>C NP_004004.2:n.3015-1G>C
NM_004014.2:c.2208-1G>C NP_004005.1:n.2208-1G>C
NM_004014.3:c.2208-1G>C NP_004005.2:n.2208-1G>C
NM_004015.2:c.1191-1G>C NP_004006.1:n.1191-1G>C
NM_004015.3:c.1191-1G>C NP_004006.1:n.1191-1G>C
NM_004016.2:c.1191-1G>C NP_004007.1:n.1191-1G>C
NM_004016.3:c.1191-1G>C NP_004007.1:n.1191-1G>C
NM_004017.2:c.1152-1G>C NP_004008.1:n.1152-1G>C
NM_004017.3:c.1152-1G>C NP_004008.1:n.1152-1G>C
NM_004018.2:c.1152-1G>C NP_004009.1:n.1152-1G>C
NM_004018.3:c.1152-1G>C NP_004009.1:n.1152-1G>C
NM_004020.3:c.2843+9067G>C NP_004011.2:n.2843+9067G>C
NM_004020.4:c.2843+9067G>C NP_004011.3:n.2843+9067G>C
NM_004021.2:c.3015-1G>C NP_004012.1:n.3015-1G>C
NM_004021.3:c.3015-1G>C NP_004012.2:n.3015-1G>C
NM_004022.2:c.2976-1G>C NP_004013.1:n.2976-1G>C
NM_004022.3:c.2976-1G>C NP_004013.2:n.2976-1G>C
NM_004023.2:c.2843+9067G>C NP_004014.1:n.2843+9067G>C
NM_004023.3:c.2843+9067G>C NP_004014.2:n.2843+9067G>C
ENST00000343523.6:c.2208-1G>C ENSP00000340057.3:n.2208-1G>C
ENST00000343523.7:c.2250-1G>C ENSP00000340057.4:n.2250-1G>C
ENST00000357033.8:c.10395-1G>C ENSP00000354923.3:n.10395-1G>C
ENST00000358062.6:c.3444-1G>C ENSP00000350765.2:n.3444-1G>C
ENST00000358062.7:c.5202-1G>C ENSP00000350765.3:n.5202-1G>C
ENST00000359836.5:c.2976-1G>C ENSP00000352894.1:n.2976-1G>C
ENST00000361471.8:c.1152-1G>C ENSP00000354464.4:n.1152-1G>C
ENST00000378677.6:c.10383-1G>C ENSP00000367948.2:n.10383-1G>C
ENST00000378680.6:c.1019+9067G>C ENSP00000367951.2:n.1019+9067G>C
ENST00000378702.8:c.1191-1G>C ENSP00000367974.4:n.1191-1G>C
ENST00000378705.3:c.699-1G>C ENSP00000367977.3:n.699-1G>C
ENST00000378707.7:c.3015-1G>C ENSP00000367979.3:n.3015-1G>C
ENST00000378723.7:c.1191-1G>C ENSP00000367997.3:n.1191-1G>C
ENST00000474231.5:c.3015-1G>C ENSP00000417123.1:n.3015-1G>C
ENST00000541735.5:c.2843+9067G>C ENSP00000444119.1:n.2843+9067G>C
ENST00000619831.4:c.10380-1G>C ENSP00000479270.1:n.10380-1G>C
ENST00000619831.5:c.6363-1G>C ENSP00000479270.2:n.6363-1G>C
ENST00000620040.4:c.10392-1G>C ENSP00000478150.1:n.10392-1G>C
ENST00000620040.5:c.2976-1G>C ENSP00000478150.2:n.2976-1G>C
ENST00000679437.1:c.57-1G>C ENSP00000506629.1:n.57-1G>C
ENST00000679641.1:c.*225+9067G>C ENSP00000506135.1:n.*225+9067G>C
ENST00000679706.1:c.180+9067G>C
ENST00000679850.1:n.5406-1G>C
ENST00000680162.1:c.1068-1G>C ENSP00000506634.1:n.1068-1G>C
ENST00000680162.2:c.1086-1G>C ENSP00000506634.2:n.1086-1G>C
ENST00000680355.1:c.1019+9067G>C ENSP00000506257.1:n.1019+9067G>C
ENST00000680557.1:c.603+34359G>C ENSP00000505164.1:n.603+34359G>C
ENST00000680701.1:n.170-1G>C
ENST00000680768.1:c.1095-1G>C ENSP00000506359.1:n.1095-1G>C
ENST00000680768.2:c.1152-1G>C ENSP00000506359.2:n.1152-1G>C
ENST00000680961.1:c.*358-1G>C ENSP00000506386.1:n.*358-1G>C
ENST00000681026.1:c.57-1G>C ENSP00000506689.1:n.57-1G>C
ENST00000681153.1:c.1152-1G>C ENSP00000505124.1:n.1152-1G>C
ENST00000681989.1:n.1193-1G>C
ENST00000682207.1:n.515-1G>C
ENST00000682238.1:c.2843+9067G>C ENSP00000508124.1:n.2843+9067G>C
ENST00000682322.1:c.1086-1G>C ENSP00000507690.1:n.1086-1G>C
ENST00000682600.1:c.1152-1G>C ENSP00000507640.1:n.1152-1G>C
ENST00000682769.1:n.987-1G>C
ENST00000683503.1:n.2210-1G>C
ENST00000683509.1:n.1873-1G>C
ENST00000683675.1:n.1494-1G>C
ENST00000683709.1:n.1874-1G>C
ENST00000683957.1:n.3848-1G>C
ENST00000683995.1:n.540-1G>C
ENST00000684072.1:n.624-1G>C
ENST00000684130.1:c.2976-1G>C ENSP00000508037.1:n.2976-1G>C
ENST00000684342.1:n.1438G>C
ENST00000684350.1:n.2210-1G>C
XM_006724468.2:c.10395-1G>C XP_006724531.1:n.10395-1G>C
XM_006724469.2:c.10371-1G>C XP_006724532.1:n.10371-1G>C
XM_006724469.3:c.10371-1G>C XP_006724532.1:n.10371-1G>C
XM_006724470.2:c.10356-1G>C XP_006724533.1:n.10356-1G>C
XM_006724470.3:c.10356-1G>C XP_006724533.1:n.10356-1G>C
XM_006724471.2:c.10290-1G>C XP_006724534.1:n.10290-1G>C
XM_006724472.2:c.10266-1G>C XP_006724535.1:n.10266-1G>C
XM_006724473.2:c.10257-1G>C XP_006724536.1:n.10257-1G>C
XM_006724474.2:c.10223+9067G>C XP_006724537.1:n.10223+9067G>C
XM_006724474.3:c.10223+9067G>C XP_006724537.1:n.10223+9067G>C
XM_006724475.2:c.10223+9067G>C XP_006724538.1:n.10223+9067G>C
XM_011545467.1:c.10272-1G>C XP_011543769.1:n.10272-1G>C
XM_017029328.1:c.10356-1G>C XP_016884817.1:n.10356-1G>C
XM_017029331.1:c.4569-1G>C XP_016884820.1:n.4569-1G>C