Canonical Allele Identifier: CA515858056
Gene: DMD HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.31198562G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31180445G>A , CM000685.2:g.31180445G>A GRCh38
NC_000023.10:g.31198562G>A , CM000685.1:g.31198562G>A GRCh37
NC_000023.9:g.31108483G>A NCBI36
NG_012232.1:g.2164165C>T , LRG_199:g.2164165C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.4857C>T ENSP00000350765.3:p.Cys1619=
ENST00000475732.3:n.2358C>T
ENST00000680162.2:c.807C>T ENSP00000506634.2:p.Cys269=
ENST00000680768.2:c.807C>T ENSP00000506359.2:p.Cys269=
ENST00000681989.1:n.809C>T
ENST00000682238.1:c.2631C>T ENSP00000508124.1:p.Cys877=
ENST00000682322.1:c.807C>T ENSP00000507690.1:p.Cys269=
ENST00000682600.1:c.807C>T ENSP00000507640.1:p.Cys269=
ENST00000682769.1:n.642C>T
ENST00000683509.1:n.1528C>T
ENST00000683675.1:n.1110C>T
ENST00000683709.1:n.1529C>T
ENST00000683957.1:n.3503C>T
ENST00000684130.1:c.2631C>T ENSP00000508037.1:p.Cys877=
ENST00000343523.7:c.1866C>T ENSP00000340057.4:p.Cys622=
ENST00000357033.9:c.10011C>T MANE Select ENSP00000354923.3:p.Cys3337=
ENST00000475732.2:n.377C>T
ENST00000619831.5:c.5979C>T ENSP00000479270.2:p.Cys1993=
ENST00000620040.5:c.2631C>T ENSP00000478150.2:p.Cys877=
ENST00000679641.1:c.*13C>T ENSP00000506135.1:n.*13C>T
ENST00000680162.1:c.684C>T ENSP00000506634.1:p.Cys228=
ENST00000680355.1:c.807C>T ENSP00000506257.1:p.Cys269=
ENST00000680557.1:c.603+23516C>T ENSP00000505164.1:n.603+23516C>T
ENST00000680768.1:c.750C>T ENSP00000506359.1:p.Cys250=
ENST00000680961.1:c.*13C>T ENSP00000506386.1:n.*13C>T
ENST00000681153.1:c.807C>T ENSP00000505124.1:p.Cys269=
ENST00000681654.1:n.941C>T
ENST00000343523.6:c.1824C>T ENSP00000340057.3:p.Cys608=
ENST00000357033.8:c.10011C>T ENSP00000354923.3:p.Cys3337=
ENST00000358062.6:c.3099C>T ENSP00000350765.2:p.Cys1033=
ENST00000359836.5:c.2631C>T ENSP00000352894.1:p.Cys877=
ENST00000361471.8:c.807C>T ENSP00000354464.4:p.Cys269=
ENST00000378677.6:c.9999C>T ENSP00000367948.2:p.Cys3333=
ENST00000378680.6:c.807C>T ENSP00000367951.2:p.Cys269=
ENST00000378702.8:c.807C>T ENSP00000367974.4:p.Cys269=
ENST00000378705.3:c.381C>T ENSP00000367977.3:p.Cys127=
ENST00000378707.7:c.2631C>T ENSP00000367979.3:p.Cys877=
ENST00000378723.7:c.807C>T ENSP00000367997.3:p.Cys269=
ENST00000474231.5:c.2631C>T ENSP00000417123.1:p.Cys877=
ENST00000475732.1:n.227C>T
ENST00000541735.5:c.2631C>T ENSP00000444119.1:p.Cys877=
ENST00000619831.4:c.9996C>T ENSP00000479270.1:p.Cys3332=
ENST00000620040.4:c.10008C>T ENSP00000478150.1:p.Cys3336=
NM_000109.3:c.9987C>T NP_000100.2:p.Cys3329=
NM_004006.2:c.10011C>T , LRG_199t1:c.10011C>T NP_003997.1:p.Cys3337=
NM_004009.3:c.9999C>T NP_004000.1:p.Cys3333=
NM_004010.3:c.9642C>T NP_004001.1:p.Cys3214=
NM_004011.3:c.5988C>T NP_004002.2:p.Cys1996=
NM_004012.3:c.5979C>T NP_004003.1:p.Cys1993=
NM_004013.2:c.2631C>T NP_004004.1:p.Cys877=
NM_004014.2:c.1824C>T NP_004005.1:p.Cys608=
NM_004015.2:c.807C>T NP_004006.1:p.Cys269=
NM_004016.2:c.807C>T NP_004007.1:p.Cys269=
NM_004017.2:c.807C>T NP_004008.1:p.Cys269=
NM_004018.2:c.807C>T NP_004009.1:p.Cys269=
NM_004019.2:c.807C>T NP_004010.1:p.Cys269=
NM_004020.3:c.2631C>T NP_004011.2:p.Cys877=
NM_004021.2:c.2631C>T NP_004012.1:p.Cys877=
NM_004022.2:c.2631C>T NP_004013.1:p.Cys877=
NM_004023.2:c.2631C>T NP_004014.1:p.Cys877=
XM_006724468.2:c.10011C>T XP_006724531.1:p.Cys3337=
XM_006724469.2:c.9987C>T XP_006724532.1:p.Cys3329=
XM_006724470.2:c.10011C>T XP_006724533.1:p.Cys3337=
XM_006724471.2:c.10011C>T XP_006724534.1:p.Cys3337=
XM_006724472.2:c.9882C>T XP_006724535.1:p.Cys3294=
XM_006724473.2:c.9873C>T XP_006724536.1:p.Cys3291=
XM_006724474.2:c.10011C>T XP_006724537.1:p.Cys3337=
XM_006724475.2:c.10011C>T XP_006724538.1:p.Cys3337=
XM_011545467.1:c.9888C>T XP_011543769.1:p.Cys3296=
XM_006724469.3:c.9987C>T XP_006724532.1:p.Cys3329=
XM_006724470.3:c.10011C>T XP_006724533.1:p.Cys3337=
XM_006724474.3:c.10011C>T XP_006724537.1:p.Cys3337=
XM_017029328.1:c.10011C>T XP_016884817.1:p.Cys3337=
XM_017029331.1:c.4185C>T XP_016884820.1:p.Cys1395=
NM_000109.4:c.9987C>T NP_000100.3:p.Cys3329=
NM_004006.3:c.10011C>T MANE Select NP_003997.2:p.Cys3337=
NM_004011.4:c.5988C>T NP_004002.3:p.Cys1996=
NM_004012.4:c.5979C>T NP_004003.2:p.Cys1993=
NM_004015.3:c.807C>T NP_004006.1:p.Cys269=
NM_004016.3:c.807C>T NP_004007.1:p.Cys269=
NM_004017.3:c.807C>T NP_004008.1:p.Cys269=
NM_004018.3:c.807C>T NP_004009.1:p.Cys269=
NM_004019.3:c.807C>T NP_004010.1:p.Cys269=
NM_004021.3:c.2631C>T NP_004012.2:p.Cys877=
NM_004023.3:c.2631C>T NP_004014.2:p.Cys877=
NM_004013.3:c.2631C>T NP_004004.2:p.Cys877=
NM_004014.3:c.1824C>T NP_004005.2:p.Cys608=
NM_004020.4:c.2631C>T NP_004011.3:p.Cys877=
NM_004022.3:c.2631C>T NP_004013.2:p.Cys877=