Canonical Allele Identifier: CA347521

Gene: DMD

Linked Data

• ClinVar Variation Id: 217212
• ClinVar RCV Id: RCV000201094 ; RCV001199880 ; RCV003238735
• dbSNP Id: rs863225010
• MyVariant Identifiers: chrX:g.31676105A>T (hg19) ; chrX:g.31657988A>T (hg38)
• PubMed: PMID:19760747 ; PMID:19937601

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31657988A>T , CM000685.2:g.31657988A>T	GRCh38
NC_000023.10:g.31676105A>T , CM000685.1:g.31676105A>T	GRCh37
NC_000023.9:g.31586026A>T	NCBI36
NG_012232.1:g.1686622T>A , LRG_199:g.1686622T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2873+2T>A	ENSP00000350765.3:n.2873+2T>A
ENST00000682238.1:c.647+2T>A	ENSP00000508124.1:n.647+2T>A
ENST00000683450.1:n.1492+2T>A
ENST00000683851.1:n.1688+2T>A
ENST00000683957.1:n.1519+2T>A
ENST00000684130.1:c.647+2T>A	ENSP00000508037.1:n.647+2T>A
ENST00000357033.9:c.8027+2T>A MANE Select	ENSP00000354923.3:n.8027+2T>A
ENST00000619831.5:c.3995+2T>A	ENSP00000479270.2:n.3995+2T>A
ENST00000620040.5:c.647+2T>A	ENSP00000478150.2:n.647+2T>A
ENST00000680961.1:c.647+2T>A	ENSP00000506386.1:n.647+2T>A
ENST00000681646.1:n.1688+2T>A
ENST00000357033.8:c.8027+2T>A	ENSP00000354923.3:n.8027+2T>A
ENST00000358062.6:c.1115+2T>A	ENSP00000350765.2:n.1115+2T>A
ENST00000359836.5:c.647+2T>A	ENSP00000352894.1:n.647+2T>A
ENST00000378677.6:c.8015+2T>A	ENSP00000367948.2:n.8015+2T>A
ENST00000378707.7:c.647+2T>A	ENSP00000367979.3:n.647+2T>A
ENST00000474231.5:c.647+2T>A	ENSP00000417123.1:n.647+2T>A
ENST00000541735.5:c.647+2T>A	ENSP00000444119.1:n.647+2T>A
ENST00000619831.4:c.8012+2T>A	ENSP00000479270.1:n.8012+2T>A
ENST00000620040.4:c.8024+2T>A	ENSP00000478150.1:n.8024+2T>A
NM_000109.3:c.8003+2T>A	NP_000100.2:n.8003+2T>A
NM_004006.2:c.8027+2T>A , LRG_199t1:c.8027+2T>A	NP_003997.1:n.8027+2T>A
NM_004009.3:c.8015+2T>A	NP_004000.1:n.8015+2T>A
NM_004010.3:c.7658+2T>A	NP_004001.1:n.7658+2T>A
NM_004011.3:c.4004+2T>A	NP_004002.2:n.4004+2T>A
NM_004012.3:c.3995+2T>A	NP_004003.1:n.3995+2T>A
NM_004013.2:c.647+2T>A	NP_004004.1:n.647+2T>A
NM_004020.3:c.647+2T>A	NP_004011.2:n.647+2T>A
NM_004021.2:c.647+2T>A	NP_004012.1:n.647+2T>A
NM_004022.2:c.647+2T>A	NP_004013.1:n.647+2T>A
NM_004023.2:c.647+2T>A	NP_004014.1:n.647+2T>A
XM_006724468.2:c.8027+2T>A	XP_006724531.1:n.8027+2T>A
XM_006724469.2:c.8003+2T>A	XP_006724532.1:n.8003+2T>A
XM_006724470.2:c.8027+2T>A	XP_006724533.1:n.8027+2T>A
XM_006724471.2:c.8027+2T>A	XP_006724534.1:n.8027+2T>A
XM_006724472.2:c.7898+2T>A	XP_006724535.1:n.7898+2T>A
XM_006724473.2:c.7889+2T>A	XP_006724536.1:n.7889+2T>A
XM_006724474.2:c.8027+2T>A	XP_006724537.1:n.8027+2T>A
XM_006724475.2:c.8027+2T>A	XP_006724538.1:n.8027+2T>A
XM_011545467.1:c.7904+2T>A	XP_011543769.1:n.7904+2T>A
XM_011545468.1:c.8027+2T>A	XP_011543770.1:n.8027+2T>A
XM_006724469.3:c.8003+2T>A	XP_006724532.1:n.8003+2T>A
XM_006724470.3:c.8027+2T>A	XP_006724533.1:n.8027+2T>A
XM_006724474.3:c.8027+2T>A	XP_006724537.1:n.8027+2T>A
XM_011545468.2:c.8027+2T>A	XP_011543770.1:n.8027+2T>A
XM_017029328.1:c.8027+2T>A	XP_016884817.1:n.8027+2T>A
XM_017029331.1:c.2201+2T>A	XP_016884820.1:n.2201+2T>A
NM_000109.4:c.8003+2T>A	NP_000100.3:n.8003+2T>A
NM_004006.3:c.8027+2T>A MANE Select	NP_003997.2:n.8027+2T>A
NM_004011.4:c.4004+2T>A	NP_004002.3:n.4004+2T>A
NM_004012.4:c.3995+2T>A	NP_004003.2:n.3995+2T>A
NM_004021.3:c.647+2T>A	NP_004012.2:n.647+2T>A
NM_004023.3:c.647+2T>A	NP_004014.2:n.647+2T>A
NM_004013.3:c.647+2T>A	NP_004004.2:n.647+2T>A
NM_004020.4:c.647+2T>A	NP_004011.3:n.647+2T>A
NM_004022.3:c.647+2T>A	NP_004013.2:n.647+2T>A