Canonical Allele Identifier: CA412666391

Gene: DMD

Linked Data

• ClinVar Variation Id: 945761
• ClinVar RCV Id: RCV001216479
• dbSNP Id: rs1437145731
• gnomAD v2: X-32361384-C-G
• gnomAD v4: X-32343267-C-G
• MyVariant Identifiers: chrX:g.32361384C>G (hg19) ; chrX:g.32343267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343267C>G , CM000685.2:g.32343267C>G	GRCh38
NC_000023.10:g.32361384C>G , CM000685.1:g.32361384C>G	GRCh37
NC_000023.9:g.32271305C>G	NCBI36
NG_012232.1:g.1001343G>C , LRG_199:g.1001343G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.452G>C	ENSP00000350765.3:p.Arg151Thr
ENST00000357033.9:c.5606G>C MANE Select	ENSP00000354923.3:p.Arg1869Thr
ENST00000619831.5:c.1574G>C	ENSP00000479270.2:p.Arg525Thr
ENST00000357033.8:c.5606G>C	ENSP00000354923.3:p.Arg1869Thr
ENST00000378677.6:c.5594G>C	ENSP00000367948.2:p.Arg1865Thr
ENST00000488902.5:n.336-126204G>C
ENST00000493412.1:c.263G>C	ENSP00000417725.1:p.Arg88Thr
ENST00000619831.4:c.5594G>C	ENSP00000479270.1:p.Arg1865Thr
ENST00000620040.4:c.5606G>C	ENSP00000478150.1:p.Arg1869Thr
NM_000109.3:c.5582G>C	NP_000100.2:p.Arg1861Thr
NM_004006.2:c.5606G>C , LRG_199t1:c.5606G>C	NP_003997.1:p.Arg1869Thr
NM_004009.3:c.5594G>C	NP_004000.1:p.Arg1865Thr
NM_004010.3:c.5237G>C	NP_004001.1:p.Arg1746Thr
NM_004011.3:c.1583G>C	NP_004002.2:p.Arg528Thr
NM_004012.3:c.1574G>C	NP_004003.1:p.Arg525Thr
XM_006724468.2:c.5606G>C	XP_006724531.1:p.Arg1869Thr
XM_006724469.2:c.5582G>C	XP_006724532.1:p.Arg1861Thr
XM_006724470.2:c.5606G>C	XP_006724533.1:p.Arg1869Thr
XM_006724471.2:c.5606G>C	XP_006724534.1:p.Arg1869Thr
XM_006724472.2:c.5477G>C	XP_006724535.1:p.Arg1826Thr
XM_006724473.2:c.5468G>C	XP_006724536.1:p.Arg1823Thr
XM_006724474.2:c.5606G>C	XP_006724537.1:p.Arg1869Thr
XM_006724475.2:c.5606G>C	XP_006724538.1:p.Arg1869Thr
XM_011545467.1:c.5483G>C	XP_011543769.1:p.Arg1828Thr
XM_011545468.1:c.5606G>C	XP_011543770.1:p.Arg1869Thr
XM_011545469.1:c.5606G>C	XP_011543771.1:p.Arg1869Thr
XM_006724469.3:c.5582G>C	XP_006724532.1:p.Arg1861Thr
XM_006724470.3:c.5606G>C	XP_006724533.1:p.Arg1869Thr
XM_006724474.3:c.5606G>C	XP_006724537.1:p.Arg1869Thr
XM_011545468.2:c.5606G>C	XP_011543770.1:p.Arg1869Thr
XM_017029328.1:c.5606G>C	XP_016884817.1:p.Arg1869Thr
XM_017029329.1:c.5606G>C	XP_016884818.1:p.Arg1869Thr
XM_017029330.2:c.5606G>C	XP_016884819.1:p.Arg1869Thr
NM_000109.4:c.5582G>C	NP_000100.3:p.Arg1861Thr
NM_004006.3:c.5606G>C MANE Select	NP_003997.2:p.Arg1869Thr
NM_004011.4:c.1583G>C	NP_004002.3:p.Arg528Thr
NM_004012.4:c.1574G>C	NP_004003.2:p.Arg525Thr