Canonical Allele Identifier: CA328405608

Gene: DMD

Linked Data

• ClinVar Variation Id: 2414664
• ClinVar RCV Id: RCV003108499
• dbSNP Id: rs993607011
• gnomAD v2: X-31198581-T-C
• gnomAD v3: X-31180464-T-C
• gnomAD v4: X-31180464-T-C
• MyVariant Identifiers: chrX:g.31198581T>C (hg19) ; chrX:g.31180464T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31180464T>C , CM000685.2:g.31180464T>C	GRCh38
NC_000023.10:g.31198581T>C , CM000685.1:g.31198581T>C	GRCh37
NC_000023.9:g.31108502T>C	NCBI36
NG_012232.1:g.2164146A>G , LRG_199:g.2164146A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4838A>G	ENSP00000350765.3:p.His1613Arg
ENST00000475732.3:n.2339A>G
ENST00000680162.2:c.788A>G	ENSP00000506634.2:p.His263Arg
ENST00000680768.2:c.788A>G	ENSP00000506359.2:p.His263Arg
ENST00000681989.1:n.790A>G
ENST00000682238.1:c.2612A>G	ENSP00000508124.1:p.His871Arg
ENST00000682322.1:c.788A>G	ENSP00000507690.1:p.His263Arg
ENST00000682600.1:c.788A>G	ENSP00000507640.1:p.His263Arg
ENST00000682769.1:n.623A>G
ENST00000683509.1:n.1509A>G
ENST00000683675.1:n.1091A>G
ENST00000683709.1:n.1510A>G
ENST00000683957.1:n.3484A>G
ENST00000684130.1:c.2612A>G	ENSP00000508037.1:p.His871Arg
ENST00000343523.7:c.1847A>G	ENSP00000340057.4:p.His616Arg
ENST00000357033.9:c.9992A>G MANE Select	ENSP00000354923.3:p.His3331Arg
ENST00000475732.2:n.358A>G
ENST00000619831.5:c.5960A>G	ENSP00000479270.2:p.His1987Arg
ENST00000620040.5:c.2612A>G	ENSP00000478150.2:p.His871Arg
ENST00000679641.1:c.621A>G	ENSP00000506135.1:p.Ala207=
ENST00000680162.1:c.665A>G	ENSP00000506634.1:p.His222Arg
ENST00000680355.1:c.788A>G	ENSP00000506257.1:p.His263Arg
ENST00000680557.1:c.603+23497A>G	ENSP00000505164.1:n.603+23497A>G
ENST00000680768.1:c.731A>G	ENSP00000506359.1:p.His244Arg
ENST00000680961.1:c.2445A>G	ENSP00000506386.1:p.Ala815=
ENST00000681153.1:c.788A>G	ENSP00000505124.1:p.His263Arg
ENST00000681654.1:n.922A>G
ENST00000343523.6:c.1805A>G	ENSP00000340057.3:p.His602Arg
ENST00000357033.8:c.9992A>G	ENSP00000354923.3:p.His3331Arg
ENST00000358062.6:c.3080A>G	ENSP00000350765.2:p.His1027Arg
ENST00000359836.5:c.2612A>G	ENSP00000352894.1:p.His871Arg
ENST00000361471.8:c.788A>G	ENSP00000354464.4:p.His263Arg
ENST00000378677.6:c.9980A>G	ENSP00000367948.2:p.His3327Arg
ENST00000378680.6:c.788A>G	ENSP00000367951.2:p.His263Arg
ENST00000378702.8:c.788A>G	ENSP00000367974.4:p.His263Arg
ENST00000378705.3:c.362A>G	ENSP00000367977.3:p.His121Arg
ENST00000378707.7:c.2612A>G	ENSP00000367979.3:p.His871Arg
ENST00000378723.7:c.788A>G	ENSP00000367997.3:p.His263Arg
ENST00000474231.5:c.2612A>G	ENSP00000417123.1:p.His871Arg
ENST00000475732.1:n.208A>G
ENST00000541735.5:c.2612A>G	ENSP00000444119.1:p.His871Arg
ENST00000619831.4:c.9977A>G	ENSP00000479270.1:p.His3326Arg
ENST00000620040.4:c.9989A>G	ENSP00000478150.1:p.His3330Arg
NM_000109.3:c.9968A>G	NP_000100.2:p.His3323Arg
NM_004006.2:c.9992A>G , LRG_199t1:c.9992A>G	NP_003997.1:p.His3331Arg
NM_004009.3:c.9980A>G	NP_004000.1:p.His3327Arg
NM_004010.3:c.9623A>G	NP_004001.1:p.His3208Arg
NM_004011.3:c.5969A>G	NP_004002.2:p.His1990Arg
NM_004012.3:c.5960A>G	NP_004003.1:p.His1987Arg
NM_004013.2:c.2612A>G	NP_004004.1:p.His871Arg
NM_004014.2:c.1805A>G	NP_004005.1:p.His602Arg
NM_004015.2:c.788A>G	NP_004006.1:p.His263Arg
NM_004016.2:c.788A>G	NP_004007.1:p.His263Arg
NM_004017.2:c.788A>G	NP_004008.1:p.His263Arg
NM_004018.2:c.788A>G	NP_004009.1:p.His263Arg
NM_004019.2:c.788A>G	NP_004010.1:p.His263Arg
NM_004020.3:c.2612A>G	NP_004011.2:p.His871Arg
NM_004021.2:c.2612A>G	NP_004012.1:p.His871Arg
NM_004022.2:c.2612A>G	NP_004013.1:p.His871Arg
NM_004023.2:c.2612A>G	NP_004014.1:p.His871Arg
XM_006724468.2:c.9992A>G	XP_006724531.1:p.His3331Arg
XM_006724469.2:c.9968A>G	XP_006724532.1:p.His3323Arg
XM_006724470.2:c.9992A>G	XP_006724533.1:p.His3331Arg
XM_006724471.2:c.9992A>G	XP_006724534.1:p.His3331Arg
XM_006724472.2:c.9863A>G	XP_006724535.1:p.His3288Arg
XM_006724473.2:c.9854A>G	XP_006724536.1:p.His3285Arg
XM_006724474.2:c.9992A>G	XP_006724537.1:p.His3331Arg
XM_006724475.2:c.9992A>G	XP_006724538.1:p.His3331Arg
XM_011545467.1:c.9869A>G	XP_011543769.1:p.His3290Arg
XM_006724469.3:c.9968A>G	XP_006724532.1:p.His3323Arg
XM_006724470.3:c.9992A>G	XP_006724533.1:p.His3331Arg
XM_006724474.3:c.9992A>G	XP_006724537.1:p.His3331Arg
XM_017029328.1:c.9992A>G	XP_016884817.1:p.His3331Arg
XM_017029331.1:c.4166A>G	XP_016884820.1:p.His1389Arg
NM_000109.4:c.9968A>G	NP_000100.3:p.His3323Arg
NM_004006.3:c.9992A>G MANE Select	NP_003997.2:p.His3331Arg
NM_004011.4:c.5969A>G	NP_004002.3:p.His1990Arg
NM_004012.4:c.5960A>G	NP_004003.2:p.His1987Arg
NM_004015.3:c.788A>G	NP_004006.1:p.His263Arg
NM_004016.3:c.788A>G	NP_004007.1:p.His263Arg
NM_004017.3:c.788A>G	NP_004008.1:p.His263Arg
NM_004018.3:c.788A>G	NP_004009.1:p.His263Arg
NM_004019.3:c.788A>G	NP_004010.1:p.His263Arg
NM_004021.3:c.2612A>G	NP_004012.2:p.His871Arg
NM_004023.3:c.2612A>G	NP_004014.2:p.His871Arg
NM_004013.3:c.2612A>G	NP_004004.2:p.His871Arg
NM_004014.3:c.1805A>G	NP_004005.2:p.His602Arg
NM_004020.4:c.2612A>G	NP_004011.3:p.His871Arg
NM_004022.3:c.2612A>G	NP_004013.2:p.His871Arg