Canonical Allele Identifier: CA10605045

Gene: DMD

Linked Data

• ClinVar Variation Id: 285230
• ClinVar RCV Id: RCV000403637 ; RCV003512031
• dbSNP Id: rs886043051
• gnomAD v4: X-31147449-G-A
• MyVariant Identifiers: chrX:g.31165566G>A (hg19) ; chrX:g.31147449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31147449G>A , CM000685.2:g.31147449G>A	GRCh38
NC_000023.10:g.31165566G>A , CM000685.1:g.31165566G>A	GRCh37
NC_000023.9:g.31075487G>A	NCBI36
NG_012232.1:g.2197161C>T , LRG_199:g.2197161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.5430C>T	ENSP00000350765.3:p.Ser1810=
ENST00000680162.2:c.1314C>T	ENSP00000506634.2:p.Ser438=
ENST00000680768.2:c.1380C>T	ENSP00000506359.2:p.Ser460=
ENST00000681989.1:n.1421C>T
ENST00000682207.1:n.743C>T
ENST00000682238.1:c.2913C>T	ENSP00000508124.1:p.Ser971=
ENST00000682322.1:c.1314C>T	ENSP00000507690.1:p.Ser438=
ENST00000682600.1:c.1380C>T	ENSP00000507640.1:p.Ser460=
ENST00000682769.1:n.1215C>T
ENST00000683503.1:n.2438C>T
ENST00000683509.1:n.2101C>T
ENST00000683675.1:n.1722C>T
ENST00000683709.1:n.2102C>T
ENST00000683957.1:n.4076C>T
ENST00000683995.1:n.768C>T
ENST00000684072.1:n.852C>T
ENST00000684103.1:n.1031C>T
ENST00000684130.1:c.3204C>T	ENSP00000508037.1:p.Ser1068=
ENST00000684342.1:n.1667C>T
ENST00000684350.1:n.2438C>T
ENST00000343523.7:c.2478C>T	ENSP00000340057.4:p.Ser826=
ENST00000357033.9:c.10623C>T MANE Select	ENSP00000354923.3:p.Ser3541=
ENST00000619831.5:c.6591C>T	ENSP00000479270.2:p.Ser2197=
ENST00000620040.5:c.3204C>T	ENSP00000478150.2:p.Ser1068=
ENST00000679437.1:c.285C>T	ENSP00000506629.1:p.Ser95=
ENST00000679641.1:c.*295C>T	ENSP00000506135.1:n.*295C>T
ENST00000679706.1:c.250C>T
ENST00000679850.1:n.5634C>T
ENST00000680162.1:c.1296C>T	ENSP00000506634.1:p.Ser432=
ENST00000680355.1:c.1089C>T	ENSP00000506257.1:p.Ser363=
ENST00000680557.1:c.604-13255C>T	ENSP00000505164.1:n.604-13255C>T
ENST00000680701.1:n.398C>T
ENST00000680768.1:c.1323C>T	ENSP00000506359.1:p.Ser441=
ENST00000680961.1:c.*586C>T	ENSP00000506386.1:n.*586C>T
ENST00000681026.1:c.285C>T	ENSP00000506689.1:p.Ser95=
ENST00000681153.1:c.1380C>T	ENSP00000505124.1:p.Ser460=
ENST00000343523.6:c.2436C>T	ENSP00000340057.3:p.Ser812=
ENST00000357033.8:c.10623C>T	ENSP00000354923.3:p.Ser3541=
ENST00000358062.6:c.3672C>T	ENSP00000350765.2:p.Ser1224=
ENST00000359836.5:c.3204C>T	ENSP00000352894.1:p.Ser1068=
ENST00000361471.8:c.1380C>T	ENSP00000354464.4:p.Ser460=
ENST00000378677.6:c.10611C>T	ENSP00000367948.2:p.Ser3537=
ENST00000378680.6:c.1089C>T	ENSP00000367951.2:p.Ser363=
ENST00000378702.8:c.1419C>T	ENSP00000367974.4:p.Ser473=
ENST00000378707.7:c.3243C>T	ENSP00000367979.3:p.Ser1081=
ENST00000378723.7:c.1419C>T	ENSP00000367997.3:p.Ser473=
ENST00000474231.5:c.3243C>T	ENSP00000417123.1:p.Ser1081=
ENST00000481143.2:n.114+21994C>T
ENST00000541735.5:c.2913C>T	ENSP00000444119.1:p.Ser971=
ENST00000619831.4:c.10608C>T	ENSP00000479270.1:p.Ser3536=
ENST00000620040.4:c.10620C>T	ENSP00000478150.1:p.Ser3540=
NM_000109.3:c.10599C>T	NP_000100.2:p.Ser3533=
NM_004006.2:c.10623C>T , LRG_199t1:c.10623C>T	NP_003997.1:p.Ser3541=
NM_004009.3:c.10611C>T	NP_004000.1:p.Ser3537=
NM_004010.3:c.10254C>T	NP_004001.1:p.Ser3418=
NM_004011.3:c.6600C>T	NP_004002.2:p.Ser2200=
NM_004012.3:c.6591C>T	NP_004003.1:p.Ser2197=
NM_004013.2:c.3243C>T	NP_004004.1:p.Ser1081=
NM_004014.2:c.2436C>T	NP_004005.1:p.Ser812=
NM_004015.2:c.1419C>T	NP_004006.1:p.Ser473=
NM_004016.2:c.1419C>T	NP_004007.1:p.Ser473=
NM_004017.2:c.1380C>T	NP_004008.1:p.Ser460=
NM_004018.2:c.1380C>T	NP_004009.1:p.Ser460=
NM_004020.3:c.2913C>T	NP_004011.2:p.Ser971=
NM_004021.2:c.3243C>T	NP_004012.1:p.Ser1081=
NM_004022.2:c.3204C>T	NP_004013.1:p.Ser1068=
NM_004023.2:c.2913C>T	NP_004014.1:p.Ser971=
XM_006724468.2:c.10623C>T	XP_006724531.1:p.Ser3541=
XM_006724469.2:c.10599C>T	XP_006724532.1:p.Ser3533=
XM_006724470.2:c.10584C>T	XP_006724533.1:p.Ser3528=
XM_006724471.2:c.10518C>T	XP_006724534.1:p.Ser3506=
XM_006724472.2:c.10494C>T	XP_006724535.1:p.Ser3498=
XM_006724473.2:c.10485C>T	XP_006724536.1:p.Ser3495=
XM_006724474.2:c.10293C>T	XP_006724537.1:p.Ser3431=
XM_006724475.2:c.10293C>T	XP_006724538.1:p.Ser3431=
XM_011545467.1:c.10500C>T	XP_011543769.1:p.Ser3500=
XM_006724469.3:c.10599C>T	XP_006724532.1:p.Ser3533=
XM_006724470.3:c.10584C>T	XP_006724533.1:p.Ser3528=
XM_006724474.3:c.10293C>T	XP_006724537.1:p.Ser3431=
XM_017029328.1:c.10584C>T	XP_016884817.1:p.Ser3528=
XM_017029331.1:c.4797C>T	XP_016884820.1:p.Ser1599=
NM_000109.4:c.10599C>T	NP_000100.3:p.Ser3533=
NM_004006.3:c.10623C>T MANE Select	NP_003997.2:p.Ser3541=
NM_004011.4:c.6600C>T	NP_004002.3:p.Ser2200=
NM_004012.4:c.6591C>T	NP_004003.2:p.Ser2197=
NM_004015.3:c.1419C>T	NP_004006.1:p.Ser473=
NM_004016.3:c.1419C>T	NP_004007.1:p.Ser473=
NM_004017.3:c.1380C>T	NP_004008.1:p.Ser460=
NM_004018.3:c.1380C>T	NP_004009.1:p.Ser460=
NM_004021.3:c.3243C>T	NP_004012.2:p.Ser1081=
NM_004023.3:c.2913C>T	NP_004014.2:p.Ser971=
NM_004013.3:c.3243C>T	NP_004004.2:p.Ser1081=
NM_004014.3:c.2436C>T	NP_004005.2:p.Ser812=
NM_004020.4:c.2913C>T	NP_004011.3:p.Ser971=
NM_004022.3:c.3204C>T	NP_004013.2:p.Ser1068=