Canonical Allele Identifier: CA273079
Gene: DMD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11211
dbSNP Id: rs128625229

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31444621G>A , CM000685.2:g.31444621G>A GRCh38
NC_000023.10:g.31462738G>A , CM000685.1:g.31462738G>A GRCh37
NC_000023.9:g.31372659G>A NCBI36
NG_012232.1:g.1899989C>T , LRG_199:g.1899989C>T

Transcript Alleles

HGVS Amino-acid change
NM_000109.3:c.8920C>T VV NP_000100.2:p.Arg2974Ter
NM_004006.2:c.8944C>T , LRG_199t1:c.8944C>T NP_003997.1:p.Arg2982Ter
NM_004009.3:c.8932C>T VV NP_004000.1:p.Arg2978Ter
NM_004010.3:c.8575C>T VV NP_004001.1:p.Arg2859Ter
NM_004011.3:c.4921C>T VV NP_004002.2:p.Arg1641Ter
NM_004012.3:c.4912C>T VV NP_004003.1:p.Arg1638Ter
NM_004013.2:c.1564C>T VV NP_004004.1:p.Arg522Ter
NM_004014.2:c.757C>T VV NP_004005.1:p.Arg253Ter
NM_004020.3:c.1564C>T VV NP_004011.2:p.Arg522Ter
NM_004021.2:c.1564C>T VV NP_004012.1:p.Arg522Ter
NM_004022.2:c.1564C>T VV NP_004013.1:p.Arg522Ter
NM_004023.2:c.1564C>T VV NP_004014.1:p.Arg522Ter
XM_006724468.2:c.8944C>T XP_006724531.1:p.Arg2982Ter
XM_006724469.2:c.8920C>T XP_006724532.1:p.Arg2974Ter
XM_006724470.2:c.8944C>T XP_006724533.1:p.Arg2982Ter
XM_006724471.2:c.8944C>T XP_006724534.1:p.Arg2982Ter
XM_006724472.2:c.8815C>T XP_006724535.1:p.Arg2939Ter
XM_006724473.2:c.8806C>T XP_006724536.1:p.Arg2936Ter
XM_006724474.2:c.8944C>T XP_006724537.1:p.Arg2982Ter
XM_006724475.2:c.8944C>T XP_006724538.1:p.Arg2982Ter
XM_011545467.1:c.8821C>T XP_011543769.1:p.Arg2941Ter
XM_011545468.1:c.8944C>T XP_011543770.1:p.Arg2982Ter
XM_006724469.3:c.8920C>T XP_006724532.1:p.Arg2974Ter
XM_006724470.3:c.8944C>T XP_006724533.1:p.Arg2982Ter
XM_006724474.3:c.8944C>T XP_006724537.1:p.Arg2982Ter
XM_011545468.2:c.8944C>T XP_011543770.1:p.Arg2982Ter
XM_017029328.1:c.8944C>T XP_016884817.1:p.Arg2982Ter
XM_017029331.1:c.3118C>T XP_016884820.1:p.Arg1040Ter
ENST00000343523.6:c.757C>T ENSP00000340057.3:p.Arg253Ter
ENST00000357033.8:c.8944C>T ENSP00000354923.3:p.Arg2982Ter
ENST00000358062.6:n.2032C>T ENSP00000350765.2:p.Arg678Ter
ENST00000359836.5:c.1564C>T ENSP00000352894.1:p.Arg522Ter
ENST00000378677.6:c.8932C>T ENSP00000367948.2:p.Arg2978Ter
ENST00000378707.7:c.1564C>T ENSP00000367979.3:p.Arg522Ter
ENST00000474231.5:c.1564C>T ENSP00000417123.1:p.Arg522Ter
ENST00000541735.5:c.1564C>T ENSP00000444119.1:p.Arg522Ter
ENST00000619831.4:n.8929C>T ENSP00000479270.1:p.Arg2977Ter
ENST00000620040.4:n.8941C>T ENSP00000478150.1:p.Arg2981Ter