Canonical Allele Identifier: CA658658948

Gene: DMD

Linked Data

• ClinVar Variation Id: 455893
• ClinVar RCV Id: RCV000012039 ; RCV000537797 ; RCV001539084 ; RCV002341259 ; RCV004537895
• dbSNP Id: rs182575709
• MyVariant Identifiers: chrX:g.32479520T>C (hg19) ; chrX:g.32461403T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32461403T>C , CM000685.2:g.32461403T>C	GRCh38
NC_000023.10:g.32479520T>C , CM000685.1:g.32479520T>C	GRCh37
NC_000023.9:g.32389441T>C	NCBI36
NG_012232.1:g.883207A>G , LRG_199:g.883207A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3639+2036A>G
ENST00000357033.9:c.3432+2036A>G MANE Select	ENSP00000354923.3:n.3432+2036A>G
ENST00000357033.8:c.3432+2036A>G	ENSP00000354923.3:n.3432+2036A>G
ENST00000378677.6:c.3420+2036A>G	ENSP00000367948.2:n.3420+2036A>G
ENST00000420596.5:c.94-96204A>G	ENSP00000399897.1:n.94-96204A>G
ENST00000448370.5:c.94-96693A>G	ENSP00000388559.1:n.94-96693A>G
ENST00000488902.5:n.336-244340A>G
ENST00000619831.4:c.3420+2036A>G	ENSP00000479270.1:n.3420+2036A>G
ENST00000620040.4:c.3432+2036A>G	ENSP00000478150.1:n.3432+2036A>G
NM_000109.3:c.3408+2036A>G	NP_000100.2:n.3408+2036A>G
NM_004006.2:c.3432+2036A>G , LRG_199t1:c.3432+2036A>G	NP_003997.1:n.3432+2036A>G
NM_004009.3:c.3420+2036A>G	NP_004000.1:n.3420+2036A>G
NM_004010.3:c.3063+2036A>G	NP_004001.1:n.3063+2036A>G
XM_006724468.2:c.3432+2036A>G	XP_006724531.1:n.3432+2036A>G
XM_006724469.2:c.3408+2036A>G	XP_006724532.1:n.3408+2036A>G
XM_006724470.2:c.3432+2036A>G	XP_006724533.1:n.3432+2036A>G
XM_006724471.2:c.3432+2036A>G	XP_006724534.1:n.3432+2036A>G
XM_006724472.2:c.3303+2036A>G	XP_006724535.1:n.3303+2036A>G
XM_006724473.2:c.3432+2036A>G	XP_006724536.1:n.3432+2036A>G
XM_006724474.2:c.3432+2036A>G	XP_006724537.1:n.3432+2036A>G
XM_006724475.2:c.3432+2036A>G	XP_006724538.1:n.3432+2036A>G
XM_011545467.1:c.3432+2036A>G	XP_011543769.1:n.3432+2036A>G
XM_011545468.1:c.3432+2036A>G	XP_011543770.1:n.3432+2036A>G
XM_011545469.1:c.3432+2036A>G	XP_011543771.1:n.3432+2036A>G
XM_006724469.3:c.3408+2036A>G	XP_006724532.1:n.3408+2036A>G
XM_006724470.3:c.3432+2036A>G	XP_006724533.1:n.3432+2036A>G
XM_006724474.3:c.3432+2036A>G	XP_006724537.1:n.3432+2036A>G
XM_011545468.2:c.3432+2036A>G	XP_011543770.1:n.3432+2036A>G
XM_017029328.1:c.3432+2036A>G	XP_016884817.1:n.3432+2036A>G
XM_017029329.1:c.3432+2036A>G	XP_016884818.1:n.3432+2036A>G
XM_017029330.2:c.3432+2036A>G	XP_016884819.1:n.3432+2036A>G
NM_000109.4:c.3408+2036A>G	NP_000100.3:n.3408+2036A>G
NM_004006.3:c.3432+2036A>G MANE Select	NP_003997.2:n.3432+2036A>G