Canonical Allele Identifier: CA412655160
Gene: DMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31444543G>C , CM000685.2:g.31444543G>C GRCh38
NC_000023.10:g.31462660G>C , CM000685.1:g.31462660G>C GRCh37
NC_000023.9:g.31372581G>C NCBI36
NG_012232.1:g.1900067C>G , LRG_199:g.1900067C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.3868C>G ENSP00000350765.3:p.Gln1290Glu
ENST00000682238.1:c.1642C>G ENSP00000508124.1:p.Gln548Glu
ENST00000683450.1:n.2487C>G
ENST00000683957.1:n.2514C>G
ENST00000684130.1:c.1642C>G ENSP00000508037.1:p.Gln548Glu
ENST00000343523.7:c.877C>G ENSP00000340057.4:p.Gln293Glu
ENST00000357033.9:c.9022C>G MANE Select ENSP00000354923.3:p.Gln3008Glu
ENST00000619831.5:c.4990C>G ENSP00000479270.2:p.Gln1664Glu
ENST00000620040.5:c.1642C>G ENSP00000478150.2:p.Gln548Glu
ENST00000680961.1:c.1642C>G ENSP00000506386.1:p.Gln548Glu
ENST00000681646.1:n.2683C>G
ENST00000343523.6:c.835C>G ENSP00000340057.3:p.Gln279Glu
ENST00000357033.8:c.9022C>G ENSP00000354923.3:p.Gln3008Glu
ENST00000358062.6:c.2110C>G ENSP00000350765.2:p.Gln704Glu
ENST00000359836.5:c.1642C>G ENSP00000352894.1:p.Gln548Glu
ENST00000378677.6:c.9010C>G ENSP00000367948.2:p.Gln3004Glu
ENST00000378707.7:c.1642C>G ENSP00000367979.3:p.Gln548Glu
ENST00000474231.5:c.1642C>G ENSP00000417123.1:p.Gln548Glu
ENST00000541735.5:c.1642C>G ENSP00000444119.1:p.Gln548Glu
ENST00000619831.4:c.9007C>G ENSP00000479270.1:p.Gln3003Glu
ENST00000620040.4:c.9019C>G ENSP00000478150.1:p.Gln3007Glu
NM_000109.3:c.8998C>G NP_000100.2:p.Gln3000Glu
NM_004006.2:c.9022C>G , LRG_199t1:c.9022C>G NP_003997.1:p.Gln3008Glu
NM_004009.3:c.9010C>G NP_004000.1:p.Gln3004Glu
NM_004010.3:c.8653C>G NP_004001.1:p.Gln2885Glu
NM_004011.3:c.4999C>G NP_004002.2:p.Gln1667Glu
NM_004012.3:c.4990C>G NP_004003.1:p.Gln1664Glu
NM_004013.2:c.1642C>G NP_004004.1:p.Gln548Glu
NM_004014.2:c.835C>G NP_004005.1:p.Gln279Glu
NM_004020.3:c.1642C>G NP_004011.2:p.Gln548Glu
NM_004021.2:c.1642C>G NP_004012.1:p.Gln548Glu
NM_004022.2:c.1642C>G NP_004013.1:p.Gln548Glu
NM_004023.2:c.1642C>G NP_004014.1:p.Gln548Glu
XM_006724468.2:c.9022C>G XP_006724531.1:p.Gln3008Glu
XM_006724469.2:c.8998C>G XP_006724532.1:p.Gln3000Glu
XM_006724470.2:c.9022C>G XP_006724533.1:p.Gln3008Glu
XM_006724471.2:c.9022C>G XP_006724534.1:p.Gln3008Glu
XM_006724472.2:c.8893C>G XP_006724535.1:p.Gln2965Glu
XM_006724473.2:c.8884C>G XP_006724536.1:p.Gln2962Glu
XM_006724474.2:c.9022C>G XP_006724537.1:p.Gln3008Glu
XM_006724475.2:c.9022C>G XP_006724538.1:p.Gln3008Glu
XM_011545467.1:c.8899C>G XP_011543769.1:p.Gln2967Glu
XM_011545468.1:c.9022C>G XP_011543770.1:p.Gln3008Glu
XM_006724469.3:c.8998C>G XP_006724532.1:p.Gln3000Glu
XM_006724470.3:c.9022C>G XP_006724533.1:p.Gln3008Glu
XM_006724474.3:c.9022C>G XP_006724537.1:p.Gln3008Glu
XM_011545468.2:c.9022C>G XP_011543770.1:p.Gln3008Glu
XM_017029328.1:c.9022C>G XP_016884817.1:p.Gln3008Glu
XM_017029331.1:c.3196C>G XP_016884820.1:p.Gln1066Glu
NM_000109.4:c.8998C>G NP_000100.3:p.Gln3000Glu
NM_004006.3:c.9022C>G MANE Select NP_003997.2:p.Gln3008Glu
NM_004011.4:c.4999C>G NP_004002.3:p.Gln1667Glu
NM_004012.4:c.4990C>G NP_004003.2:p.Gln1664Glu
NM_004021.3:c.1642C>G NP_004012.2:p.Gln548Glu
NM_004023.3:c.1642C>G NP_004014.2:p.Gln548Glu
NM_004013.3:c.1642C>G NP_004004.2:p.Gln548Glu
NM_004014.3:c.835C>G NP_004005.2:p.Gln279Glu
NM_004020.4:c.1642C>G NP_004011.3:p.Gln548Glu
NM_004022.3:c.1642C>G NP_004013.2:p.Gln548Glu