Canonical Allele Identifier: CA412666219

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.32361360T>C (hg19) ; chrX:g.32343243T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343243T>C , CM000685.2:g.32343243T>C	GRCh38
NC_000023.10:g.32361360T>C , CM000685.1:g.32361360T>C	GRCh37
NC_000023.9:g.32271281T>C	NCBI36
NG_012232.1:g.1001367A>G , LRG_199:g.1001367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.476A>G	ENSP00000350765.3:p.His159Arg
ENST00000357033.9:c.5630A>G MANE Select	ENSP00000354923.3:p.His1877Arg
ENST00000619831.5:c.1598A>G	ENSP00000479270.2:p.His533Arg
ENST00000357033.8:c.5630A>G	ENSP00000354923.3:p.His1877Arg
ENST00000378677.6:c.5618A>G	ENSP00000367948.2:p.His1873Arg
ENST00000488902.5:n.336-126180A>G
ENST00000493412.1:c.287A>G	ENSP00000417725.1:p.His96Arg
ENST00000619831.4:c.5618A>G	ENSP00000479270.1:p.His1873Arg
ENST00000620040.4:c.5630A>G	ENSP00000478150.1:p.His1877Arg
NM_000109.3:c.5606A>G	NP_000100.2:p.His1869Arg
NM_004006.2:c.5630A>G , LRG_199t1:c.5630A>G	NP_003997.1:p.His1877Arg
NM_004009.3:c.5618A>G	NP_004000.1:p.His1873Arg
NM_004010.3:c.5261A>G	NP_004001.1:p.His1754Arg
NM_004011.3:c.1607A>G	NP_004002.2:p.His536Arg
NM_004012.3:c.1598A>G	NP_004003.1:p.His533Arg
XM_006724468.2:c.5630A>G	XP_006724531.1:p.His1877Arg
XM_006724469.2:c.5606A>G	XP_006724532.1:p.His1869Arg
XM_006724470.2:c.5630A>G	XP_006724533.1:p.His1877Arg
XM_006724471.2:c.5630A>G	XP_006724534.1:p.His1877Arg
XM_006724472.2:c.5501A>G	XP_006724535.1:p.His1834Arg
XM_006724473.2:c.5492A>G	XP_006724536.1:p.His1831Arg
XM_006724474.2:c.5630A>G	XP_006724537.1:p.His1877Arg
XM_006724475.2:c.5630A>G	XP_006724538.1:p.His1877Arg
XM_011545467.1:c.5507A>G	XP_011543769.1:p.His1836Arg
XM_011545468.1:c.5630A>G	XP_011543770.1:p.His1877Arg
XM_011545469.1:c.5630A>G	XP_011543771.1:p.His1877Arg
XM_006724469.3:c.5606A>G	XP_006724532.1:p.His1869Arg
XM_006724470.3:c.5630A>G	XP_006724533.1:p.His1877Arg
XM_006724474.3:c.5630A>G	XP_006724537.1:p.His1877Arg
XM_011545468.2:c.5630A>G	XP_011543770.1:p.His1877Arg
XM_017029328.1:c.5630A>G	XP_016884817.1:p.His1877Arg
XM_017029329.1:c.5630A>G	XP_016884818.1:p.His1877Arg
XM_017029330.2:c.5630A>G	XP_016884819.1:p.His1877Arg
NM_000109.4:c.5606A>G	NP_000100.3:p.His1869Arg
NM_004006.3:c.5630A>G MANE Select	NP_003997.2:p.His1877Arg
NM_004011.4:c.1607A>G	NP_004002.3:p.His536Arg
NM_004012.4:c.1598A>G	NP_004003.2:p.His533Arg