Canonical Allele Identifier: CA412658661
Gene: DMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31773979T>A , CM000685.2:g.31773979T>A GRCh38
NC_000023.10:g.31792096T>A , CM000685.1:g.31792096T>A GRCh37
NC_000023.9:g.31702017T>A NCBI36
NG_012232.1:g.1570631A>T , LRG_199:g.1570631A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.2369A>T ENSP00000350765.3:p.Glu790Val
ENST00000682238.1:c.143A>T ENSP00000508124.1:p.Glu48Val
ENST00000683117.1:n.1184A>T
ENST00000683450.1:n.1106A>T
ENST00000683851.1:n.1184A>T
ENST00000683957.1:n.1015A>T
ENST00000684130.1:c.143A>T ENSP00000508037.1:p.Glu48Val
ENST00000357033.9:c.7523A>T MANE Select ENSP00000354923.3:p.Glu2508Val
ENST00000619831.5:c.3491A>T ENSP00000479270.2:p.Glu1164Val
ENST00000620040.5:c.143A>T ENSP00000478150.2:p.Glu48Val
ENST00000680961.1:c.143A>T ENSP00000506386.1:p.Glu48Val
ENST00000681646.1:n.1184A>T
ENST00000681839.1:c.512A>T ENSP00000505228.1:p.Glu171Val
ENST00000357033.8:c.7523A>T ENSP00000354923.3:p.Glu2508Val
ENST00000358062.6:c.611A>T ENSP00000350765.2:p.Glu204Val
ENST00000359836.5:c.143A>T ENSP00000352894.1:p.Glu48Val
ENST00000378677.6:c.7511A>T ENSP00000367948.2:p.Glu2504Val
ENST00000378707.7:c.143A>T ENSP00000367979.3:p.Glu48Val
ENST00000471779.1:c.280A>T ENSP00000417075.1:n.280A>T
ENST00000474231.5:c.143A>T ENSP00000417123.1:p.Glu48Val
ENST00000541735.5:c.143A>T ENSP00000444119.1:p.Glu48Val
ENST00000619831.4:c.7508A>T ENSP00000479270.1:p.Glu2503Val
ENST00000620040.4:c.7520A>T ENSP00000478150.1:p.Glu2507Val
NM_000109.3:c.7499A>T NP_000100.2:p.Glu2500Val
NM_004006.2:c.7523A>T , LRG_199t1:c.7523A>T NP_003997.1:p.Glu2508Val
NM_004009.3:c.7511A>T NP_004000.1:p.Glu2504Val
NM_004010.3:c.7154A>T NP_004001.1:p.Glu2385Val
NM_004011.3:c.3500A>T NP_004002.2:p.Glu1167Val
NM_004012.3:c.3491A>T NP_004003.1:p.Glu1164Val
NM_004013.2:c.143A>T NP_004004.1:p.Glu48Val
NM_004020.3:c.143A>T NP_004011.2:p.Glu48Val
NM_004021.2:c.143A>T NP_004012.1:p.Glu48Val
NM_004022.2:c.143A>T NP_004013.1:p.Glu48Val
NM_004023.2:c.143A>T NP_004014.1:p.Glu48Val
XM_006724468.2:c.7523A>T XP_006724531.1:p.Glu2508Val
XM_006724469.2:c.7499A>T XP_006724532.1:p.Glu2500Val
XM_006724470.2:c.7523A>T XP_006724533.1:p.Glu2508Val
XM_006724471.2:c.7523A>T XP_006724534.1:p.Glu2508Val
XM_006724472.2:c.7394A>T XP_006724535.1:p.Glu2465Val
XM_006724473.2:c.7385A>T XP_006724536.1:p.Glu2462Val
XM_006724474.2:c.7523A>T XP_006724537.1:p.Glu2508Val
XM_006724475.2:c.7523A>T XP_006724538.1:p.Glu2508Val
XM_011545467.1:c.7400A>T XP_011543769.1:p.Glu2467Val
XM_011545468.1:c.7523A>T XP_011543770.1:p.Glu2508Val
XM_006724469.3:c.7499A>T XP_006724532.1:p.Glu2500Val
XM_006724470.3:c.7523A>T XP_006724533.1:p.Glu2508Val
XM_006724474.3:c.7523A>T XP_006724537.1:p.Glu2508Val
XM_011545468.2:c.7523A>T XP_011543770.1:p.Glu2508Val
XM_017029328.1:c.7523A>T XP_016884817.1:p.Glu2508Val
XM_017029331.1:c.1697A>T XP_016884820.1:p.Glu566Val
NM_000109.4:c.7499A>T NP_000100.3:p.Glu2500Val
NM_004006.3:c.7523A>T MANE Select NP_003997.2:p.Glu2508Val
NM_004011.4:c.3500A>T NP_004002.3:p.Glu1167Val
NM_004012.4:c.3491A>T NP_004003.2:p.Glu1164Val
NM_004021.3:c.143A>T NP_004012.2:p.Glu48Val
NM_004023.3:c.143A>T NP_004014.2:p.Glu48Val
NM_004013.3:c.143A>T NP_004004.2:p.Glu48Val
NM_004020.4:c.143A>T NP_004011.3:p.Glu48Val
NM_004022.3:c.143A>T NP_004013.2:p.Glu48Val