Canonical Allele Identifier: CA10377499

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31134165C>T , CM000685.2:g.31134165C>T	GRCh38
NC_000023.10:g.31152282C>T , CM000685.1:g.31152282C>T	GRCh37
NC_000023.9:g.31062203C>T	NCBI36
NG_012232.1:g.2210445G>A , LRG_199:g.2210445G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10951G>A MANE Select	NP_003997.2:p.Asp3651Asn
ENST00000357033.9:c.10951G>A MANE Select	ENSP00000354923.3:p.Asp3651Asn
NM_000109.3:c.10927G>A	NP_000100.2:p.Asp3643Asn
NM_000109.4:c.10927G>A	NP_000100.3:p.Asp3643Asn
NM_004006.2:c.10951G>A , LRG_199t1:c.10951G>A	NP_003997.1:p.Asp3651Asn
NM_004009.3:c.10939G>A	NP_004000.1:p.Asp3647Asn
NM_004010.3:c.10582G>A	NP_004001.1:p.Asp3528Asn
NM_004011.3:c.6928G>A	NP_004002.2:p.Asp2310Asn
NM_004011.4:c.6928G>A	NP_004002.3:p.Asp2310Asn
NM_004012.3:c.6919G>A	NP_004003.1:p.Asp2307Asn
NM_004012.4:c.6919G>A	NP_004003.2:p.Asp2307Asn
NM_004013.2:c.3571G>A	NP_004004.1:p.Asp1191Asn
NM_004013.3:c.3571G>A	NP_004004.2:p.Asp1191Asn
NM_004014.2:c.2764G>A	NP_004005.1:p.Asp922Asn
NM_004014.3:c.2764G>A	NP_004005.2:p.Asp922Asn
NM_004015.2:c.1747G>A	NP_004006.1:p.Asp583Asn
NM_004015.3:c.1747G>A	NP_004006.1:p.Asp583Asn
NM_004016.2:c.1747G>A	NP_004007.1:p.Asp583Asn
NM_004016.3:c.1747G>A	NP_004007.1:p.Asp583Asn
NM_004017.2:c.1708G>A	NP_004008.1:p.Asp570Asn
NM_004017.3:c.1708G>A	NP_004008.1:p.Asp570Asn
NM_004018.2:c.1708G>A	NP_004009.1:p.Asp570Asn
NM_004018.3:c.1708G>A	NP_004009.1:p.Asp570Asn
NM_004020.3:c.3241G>A	NP_004011.2:p.Asp1081Asn
NM_004020.4:c.3241G>A	NP_004011.3:p.Asp1081Asn
NM_004021.2:c.3571G>A	NP_004012.1:p.Asp1191Asn
NM_004021.3:c.3571G>A	NP_004012.2:p.Asp1191Asn
NM_004022.2:c.3532G>A	NP_004013.1:p.Asp1178Asn
NM_004022.3:c.3532G>A	NP_004013.2:p.Asp1178Asn
NM_004023.2:c.3241G>A	NP_004014.1:p.Asp1081Asn
NM_004023.3:c.3241G>A	NP_004014.2:p.Asp1081Asn
ENST00000343523.6:c.2764G>A	ENSP00000340057.3:p.Asp922Asn
ENST00000343523.7:c.2806G>A	ENSP00000340057.4:p.Asp936Asn
ENST00000357033.8:c.10951G>A	ENSP00000354923.3:p.Asp3651Asn
ENST00000358062.6:c.4000G>A	ENSP00000350765.2:p.Asp1334Asn
ENST00000358062.7:c.5758G>A	ENSP00000350765.3:p.Asp1920Asn
ENST00000359836.5:c.3532G>A	ENSP00000352894.1:p.Asp1178Asn
ENST00000361471.8:c.1708G>A	ENSP00000354464.4:p.Asp570Asn
ENST00000378677.6:c.10939G>A	ENSP00000367948.2:p.Asp3647Asn
ENST00000378680.6:c.1417G>A	ENSP00000367951.2:p.Asp473Asn
ENST00000378702.8:c.1747G>A	ENSP00000367974.4:p.Asp583Asn
ENST00000378707.7:c.3571G>A	ENSP00000367979.3:p.Asp1191Asn
ENST00000378723.7:c.1747G>A	ENSP00000367997.3:p.Asp583Asn
ENST00000474231.5:c.3571G>A	ENSP00000417123.1:p.Asp1191Asn
ENST00000481143.2:n.114+35278G>A
ENST00000541735.5:c.3241G>A	ENSP00000444119.1:p.Asp1081Asn
ENST00000619831.4:c.10936G>A	ENSP00000479270.1:p.Asp3646Asn
ENST00000619831.5:c.6919G>A	ENSP00000479270.2:p.Asp2307Asn
ENST00000620040.4:c.10948G>A	ENSP00000478150.1:p.Asp3650Asn
ENST00000620040.5:c.3336-7492G>A	ENSP00000478150.2:n.3336-7492G>A
ENST00000679437.1:c.613G>A	ENSP00000506629.1:p.Asp205Asn
ENST00000679482.1:n.525G>A
ENST00000679641.1:c.*623G>A	ENSP00000506135.1:n.*623G>A
ENST00000679706.1:c.665G>A
ENST00000679850.1:n.5962G>A
ENST00000680162.1:c.1624G>A	ENSP00000506634.1:p.Asp542Asn
ENST00000680162.2:c.1642G>A	ENSP00000506634.2:p.Asp548Asn
ENST00000680355.1:c.1417G>A	ENSP00000506257.1:p.Asp473Asn
ENST00000680557.1:c.633G>A	ENSP00000505164.1:p.Arg211=
ENST00000680701.1:n.726G>A
ENST00000680768.1:c.1651G>A	ENSP00000506359.1:p.Asp551Asn
ENST00000680768.2:c.1648G>A	ENSP00000506359.2:p.Asp550Asn
ENST00000680961.1:c.*914G>A	ENSP00000506386.1:n.*914G>A
ENST00000681026.1:c.613G>A	ENSP00000506689.1:p.Asp205Asn
ENST00000681153.1:c.1708G>A	ENSP00000505124.1:p.Asp570Asn
ENST00000681989.1:n.1749G>A
ENST00000682207.1:n.1071G>A
ENST00000682238.1:c.3241G>A	ENSP00000508124.1:p.Asp1081Asn
ENST00000682322.1:c.1642G>A	ENSP00000507690.1:p.Asp548Asn
ENST00000682600.1:c.1708G>A	ENSP00000507640.1:p.Asp570Asn
ENST00000682746.1:n.341G>A
ENST00000682769.1:n.1543G>A
ENST00000683503.1:n.2766G>A
ENST00000683509.1:n.2429G>A
ENST00000683675.1:n.2050G>A
ENST00000683709.1:n.2430G>A
ENST00000683995.1:n.1096G>A
ENST00000684072.1:n.1180G>A
ENST00000684103.1:n.1359G>A
ENST00000684130.1:c.3532G>A	ENSP00000508037.1:p.Asp1178Asn
ENST00000684247.1:n.423G>A
ENST00000684342.1:n.1995G>A
ENST00000684350.1:n.2766G>A
XM_006724468.2:c.10951G>A	XP_006724531.1:p.Asp3651Asn
XM_006724469.2:c.10927G>A	XP_006724532.1:p.Asp3643Asn
XM_006724469.3:c.10927G>A	XP_006724532.1:p.Asp3643Asn
XM_006724470.2:c.10912G>A	XP_006724533.1:p.Asp3638Asn
XM_006724470.3:c.10912G>A	XP_006724533.1:p.Asp3638Asn
XM_006724471.2:c.10846G>A	XP_006724534.1:p.Asp3616Asn
XM_006724472.2:c.10822G>A	XP_006724535.1:p.Asp3608Asn
XM_006724473.2:c.10813G>A	XP_006724536.1:p.Asp3605Asn
XM_006724474.2:c.10621G>A	XP_006724537.1:p.Asp3541Asn
XM_006724474.3:c.10621G>A	XP_006724537.1:p.Asp3541Asn
XM_006724475.2:c.10621G>A	XP_006724538.1:p.Asp3541Asn
XM_011545467.1:c.10828G>A	XP_011543769.1:p.Asp3610Asn
XM_017029328.1:c.10912G>A	XP_016884817.1:p.Asp3638Asn
XM_017029331.1:c.5125G>A	XP_016884820.1:p.Asp1709Asn