Canonical Allele Identifier: CA515858735
Community Standard Title: NM_004006.3(DMD):c.8334T>A (p.Arg2778=)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31507337A>T , CM000685.2:g.31507337A>T GRCh38
NC_000023.10:g.31525454A>T , CM000685.1:g.31525454A>T GRCh37
NC_000023.9:g.31435375A>T NCBI36
NG_012232.1:g.1837273T>A , LRG_199:g.1837273T>A

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.8334T>A MANE Select NP_003997.2:p.Arg2778=
ENST00000357033.9:c.8334T>A MANE Select ENSP00000354923.3:p.Arg2778=
NM_000109.3:c.8310T>A NP_000100.2:p.Arg2770=
NM_000109.4:c.8310T>A NP_000100.3:p.Arg2770=
NM_004006.2:c.8334T>A , LRG_199t1:c.8334T>A NP_003997.1:p.Arg2778=
NM_004009.3:c.8322T>A NP_004000.1:p.Arg2774=
NM_004010.3:c.7965T>A NP_004001.1:p.Arg2655=
NM_004011.3:c.4311T>A NP_004002.2:p.Arg1437=
NM_004011.4:c.4311T>A NP_004002.3:p.Arg1437=
NM_004012.3:c.4302T>A NP_004003.1:p.Arg1434=
NM_004012.4:c.4302T>A NP_004003.2:p.Arg1434=
NM_004013.2:c.954T>A NP_004004.1:p.Arg318=
NM_004013.3:c.954T>A NP_004004.2:p.Arg318=
NM_004014.2:c.147T>A NP_004005.1:p.Arg49=
NM_004014.3:c.147T>A NP_004005.2:p.Arg49=
NM_004020.3:c.954T>A NP_004011.2:p.Arg318=
NM_004020.4:c.954T>A NP_004011.3:p.Arg318=
NM_004021.2:c.954T>A NP_004012.1:p.Arg318=
NM_004021.3:c.954T>A NP_004012.2:p.Arg318=
NM_004022.2:c.954T>A NP_004013.1:p.Arg318=
NM_004022.3:c.954T>A NP_004013.2:p.Arg318=
NM_004023.2:c.954T>A NP_004014.1:p.Arg318=
NM_004023.3:c.954T>A NP_004014.2:p.Arg318=
ENST00000343523.6:c.147T>A ENSP00000340057.3:p.Arg49=
ENST00000343523.7:c.189T>A ENSP00000340057.4:p.Arg63=
ENST00000357033.8:c.8334T>A ENSP00000354923.3:p.Arg2778=
ENST00000358062.6:c.1422T>A ENSP00000350765.2:p.Arg474=
ENST00000358062.7:c.3180T>A ENSP00000350765.3:p.Arg1060=
ENST00000359836.5:c.954T>A ENSP00000352894.1:p.Arg318=
ENST00000378677.6:c.8322T>A ENSP00000367948.2:p.Arg2774=
ENST00000378707.7:c.954T>A ENSP00000367979.3:p.Arg318=
ENST00000445312.1:n.391T>A
ENST00000474231.5:c.954T>A ENSP00000417123.1:p.Arg318=
ENST00000541735.5:c.954T>A ENSP00000444119.1:p.Arg318=
ENST00000619831.4:c.8319T>A ENSP00000479270.1:p.Arg2773=
ENST00000619831.5:c.4302T>A ENSP00000479270.2:p.Arg1434=
ENST00000620040.4:c.8331T>A ENSP00000478150.1:p.Arg2777=
ENST00000620040.5:c.954T>A ENSP00000478150.2:p.Arg318=
ENST00000680961.1:c.954T>A ENSP00000506386.1:p.Arg318=
ENST00000681646.1:n.1995T>A
ENST00000682238.1:c.954T>A ENSP00000508124.1:p.Arg318=
ENST00000683450.1:n.1799T>A
ENST00000683957.1:n.1826T>A
ENST00000684130.1:c.954T>A ENSP00000508037.1:p.Arg318=
XM_006724468.2:c.8334T>A XP_006724531.1:p.Arg2778=
XM_006724469.2:c.8310T>A XP_006724532.1:p.Arg2770=
XM_006724469.3:c.8310T>A XP_006724532.1:p.Arg2770=
XM_006724470.2:c.8334T>A XP_006724533.1:p.Arg2778=
XM_006724470.3:c.8334T>A XP_006724533.1:p.Arg2778=
XM_006724471.2:c.8334T>A XP_006724534.1:p.Arg2778=
XM_006724472.2:c.8205T>A XP_006724535.1:p.Arg2735=
XM_006724473.2:c.8196T>A XP_006724536.1:p.Arg2732=
XM_006724474.2:c.8334T>A XP_006724537.1:p.Arg2778=
XM_006724474.3:c.8334T>A XP_006724537.1:p.Arg2778=
XM_006724475.2:c.8334T>A XP_006724538.1:p.Arg2778=
XM_011545467.1:c.8211T>A XP_011543769.1:p.Arg2737=
XM_011545468.1:c.8334T>A XP_011543770.1:p.Arg2778=
XM_011545468.2:c.8334T>A XP_011543770.1:p.Arg2778=
XM_017029328.1:c.8334T>A XP_016884817.1:p.Arg2778=
XM_017029331.1:c.2508T>A XP_016884820.1:p.Arg836=