Canonical Allele Identifier: CA412669533
Gene: DMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32310093C>G , CM000685.2:g.32310093C>G GRCh38
NC_000023.10:g.32328210C>G , CM000685.1:g.32328210C>G GRCh37
NC_000023.9:g.32238131C>G NCBI36
NG_012232.1:g.1034517G>C , LRG_199:g.1034517G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.952G>C ENSP00000350765.3:p.Glu318Gln
ENST00000357033.9:c.6106G>C MANE Select ENSP00000354923.3:p.Glu2036Gln
ENST00000619831.5:c.2074G>C ENSP00000479270.2:p.Glu692Gln
ENST00000357033.8:c.6106G>C ENSP00000354923.3:p.Glu2036Gln
ENST00000378677.6:c.6094G>C ENSP00000367948.2:p.Glu2032Gln
ENST00000488902.5:n.336-93030G>C
ENST00000619831.4:c.6094G>C ENSP00000479270.1:p.Glu2032Gln
ENST00000620040.4:c.6106G>C ENSP00000478150.1:p.Glu2036Gln
NM_000109.3:c.6082G>C NP_000100.2:p.Glu2028Gln
NM_004006.2:c.6106G>C , LRG_199t1:c.6106G>C NP_003997.1:p.Glu2036Gln
NM_004009.3:c.6094G>C NP_004000.1:p.Glu2032Gln
NM_004010.3:c.5737G>C NP_004001.1:p.Glu1913Gln
NM_004011.3:c.2083G>C NP_004002.2:p.Glu695Gln
NM_004012.3:c.2074G>C NP_004003.1:p.Glu692Gln
XM_006724468.2:c.6106G>C XP_006724531.1:p.Glu2036Gln
XM_006724469.2:c.6082G>C XP_006724532.1:p.Glu2028Gln
XM_006724470.2:c.6106G>C XP_006724533.1:p.Glu2036Gln
XM_006724471.2:c.6106G>C XP_006724534.1:p.Glu2036Gln
XM_006724472.2:c.5977G>C XP_006724535.1:p.Glu1993Gln
XM_006724473.2:c.5968G>C XP_006724536.1:p.Glu1990Gln
XM_006724474.2:c.6106G>C XP_006724537.1:p.Glu2036Gln
XM_006724475.2:c.6106G>C XP_006724538.1:p.Glu2036Gln
XM_011545467.1:c.5983G>C XP_011543769.1:p.Glu1995Gln
XM_011545468.1:c.6106G>C XP_011543770.1:p.Glu2036Gln
XM_006724469.3:c.6082G>C XP_006724532.1:p.Glu2028Gln
XM_006724470.3:c.6106G>C XP_006724533.1:p.Glu2036Gln
XM_006724474.3:c.6106G>C XP_006724537.1:p.Glu2036Gln
XM_011545468.2:c.6106G>C XP_011543770.1:p.Glu2036Gln
XM_017029328.1:c.6106G>C XP_016884817.1:p.Glu2036Gln
XM_017029329.1:c.6106G>C XP_016884818.1:p.Glu2036Gln
XM_017029330.2:c.6106G>C XP_016884819.1:p.Glu2036Gln
XM_017029331.1:c.280G>C XP_016884820.1:p.Glu94Gln
NM_000109.4:c.6082G>C NP_000100.3:p.Glu2028Gln
NM_004006.3:c.6106G>C MANE Select NP_003997.2:p.Glu2036Gln
NM_004011.4:c.2083G>C NP_004002.3:p.Glu695Gln
NM_004012.4:c.2074G>C NP_004003.2:p.Glu692Gln