Canonical Allele Identifier: CA273073
Gene: DMD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11213
dbSNP Id: rs104894787

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31178784G>A , CM000685.2:g.31178784G>A GRCh38
NC_000023.10:g.31196901G>A , CM000685.1:g.31196901G>A GRCh37
NC_000023.9:g.31106822G>A NCBI36
NG_012232.1:g.2165826C>T , LRG_199:g.2165826C>T

Transcript Alleles

HGVS Amino-acid change
NM_000109.3:c.10084C>T VV NP_000100.2:p.Arg3362Ter
NM_004006.2:c.10108C>T , LRG_199t1:c.10108C>T NP_003997.1:p.Arg3370Ter
NM_004009.3:c.10096C>T VV NP_004000.1:p.Arg3366Ter
NM_004010.3:c.9739C>T VV NP_004001.1:p.Arg3247Ter
NM_004011.3:c.6085C>T VV NP_004002.2:p.Arg2029Ter
NM_004012.3:c.6076C>T VV NP_004003.1:p.Arg2026Ter
NM_004013.2:c.2728C>T VV NP_004004.1:p.Arg910Ter
NM_004014.2:c.1921C>T VV NP_004005.1:p.Arg641Ter
NM_004015.2:c.904C>T VV NP_004006.1:p.Arg302Ter
NM_004016.2:c.904C>T VV NP_004007.1:p.Arg302Ter
NM_004017.2:c.904C>T VV NP_004008.1:p.Arg302Ter
NM_004018.2:c.904C>T VV NP_004009.1:p.Arg302Ter
NM_004019.2:c.904C>T VV NP_004010.1:p.Arg302Ter
NM_004020.3:c.2728C>T VV NP_004011.2:p.Arg910Ter
NM_004021.2:c.2728C>T VV NP_004012.1:p.Arg910Ter
NM_004022.2:c.2728C>T VV NP_004013.1:p.Arg910Ter
NM_004023.2:c.2728C>T VV NP_004014.1:p.Arg910Ter
XM_006724468.2:c.10108C>T XP_006724531.1:p.Arg3370Ter
XM_006724469.2:c.10084C>T XP_006724532.1:p.Arg3362Ter
XM_006724470.2:c.10108C>T XP_006724533.1:p.Arg3370Ter
XM_006724471.2:c.10108C>T XP_006724534.1:p.Arg3370Ter
XM_006724472.2:c.9979C>T XP_006724535.1:p.Arg3327Ter
XM_006724473.2:c.9970C>T XP_006724536.1:p.Arg3324Ter
XM_006724474.2:c.10108C>T XP_006724537.1:p.Arg3370Ter
XM_006724475.2:c.10108C>T XP_006724538.1:p.Arg3370Ter
XM_011545467.1:c.9985C>T XP_011543769.1:p.Arg3329Ter
XM_006724469.3:c.10084C>T
XM_006724470.3:c.10108C>T
XM_006724474.3:c.10108C>T
XM_017029328.1:c.10108C>T XP_016884817.1:p.Arg3370Ter
XM_017029331.1:c.4282C>T XP_016884820.1:p.Arg1428Ter
ENST00000343523.6:c.1921C>T ENSP00000340057.3:p.Arg641Ter
ENST00000357033.8:c.10108C>T ENSP00000354923.3:p.Arg3370Ter
ENST00000358062.6:n.3196C>T ENSP00000350765.2:p.Arg1066Ter
ENST00000359836.5:c.2728C>T ENSP00000352894.1:p.Arg910Ter
ENST00000361471.8:c.904C>T ENSP00000354464.4:p.Arg302Ter
ENST00000378677.6:c.10096C>T ENSP00000367948.2:p.Arg3366Ter
ENST00000378680.6:c.904C>T ENSP00000367951.2:p.Arg302Ter
ENST00000378702.8:c.904C>T ENSP00000367974.4:p.Arg302Ter
ENST00000378705.3:n.478C>T ENSP00000367977.3:p.Arg160Ter
ENST00000378707.7:c.2728C>T ENSP00000367979.3:p.Arg910Ter
ENST00000378723.7:c.904C>T ENSP00000367997.3:p.Arg302Ter
ENST00000474231.5:c.2728C>T ENSP00000417123.1:p.Arg910Ter
ENST00000475732.1:n.324C>T
ENST00000541735.5:c.2728C>T ENSP00000444119.1:p.Arg910Ter
ENST00000619831.4:n.10093C>T ENSP00000479270.1:p.Arg3365Ter
ENST00000620040.4:n.10105C>T ENSP00000478150.1:p.Arg3369Ter