Canonical Allele Identifier: CA347584

Gene: DMD

Linked Data

• ClinVar Variation Id: 217190
• ClinVar RCV Id: RCV000201191 ; RCV001781594 ; RCV002222440
• dbSNP Id: rs794727357
• MyVariant Identifiers: chrX:g.32490428T>G (hg19) ; chrX:g.32472311T>G (hg38)
• PubMed: PMID:15351422

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32472311T>G , CM000685.2:g.32472311T>G	GRCh38
NC_000023.10:g.32490428T>G , CM000685.1:g.32490428T>G	GRCh37
NC_000023.9:g.32400349T>G	NCBI36
NG_012232.1:g.872299A>C , LRG_199:g.872299A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3011-2A>C
ENST00000357033.9:c.2804-2A>C MANE Select	ENSP00000354923.3:n.2804-2A>C
ENST00000357033.8:c.2804-2A>C	ENSP00000354923.3:n.2804-2A>C
ENST00000378677.6:c.2792-2A>C	ENSP00000367948.2:n.2792-2A>C
ENST00000420596.5:c.94-107112A>C	ENSP00000399897.1:n.94-107112A>C
ENST00000448370.5:c.94-107601A>C	ENSP00000388559.1:n.94-107601A>C
ENST00000488902.5:n.336-255248A>C
ENST00000619831.4:c.2792-2A>C	ENSP00000479270.1:n.2792-2A>C
ENST00000620040.4:c.2804-2A>C	ENSP00000478150.1:n.2804-2A>C
NM_000109.3:c.2780-2A>C	NP_000100.2:n.2780-2A>C
NM_004006.2:c.2804-2A>C , LRG_199t1:c.2804-2A>C	NP_003997.1:n.2804-2A>C
NM_004009.3:c.2792-2A>C	NP_004000.1:n.2792-2A>C
NM_004010.3:c.2435-2A>C	NP_004001.1:n.2435-2A>C
XM_006724468.2:c.2804-2A>C	XP_006724531.1:n.2804-2A>C
XM_006724469.2:c.2780-2A>C	XP_006724532.1:n.2780-2A>C
XM_006724470.2:c.2804-2A>C	XP_006724533.1:n.2804-2A>C
XM_006724471.2:c.2804-2A>C	XP_006724534.1:n.2804-2A>C
XM_006724472.2:c.2675-2A>C	XP_006724535.1:n.2675-2A>C
XM_006724473.2:c.2804-2A>C	XP_006724536.1:n.2804-2A>C
XM_006724474.2:c.2804-2A>C	XP_006724537.1:n.2804-2A>C
XM_006724475.2:c.2804-2A>C	XP_006724538.1:n.2804-2A>C
XM_011545467.1:c.2804-2A>C	XP_011543769.1:n.2804-2A>C
XM_011545468.1:c.2804-2A>C	XP_011543770.1:n.2804-2A>C
XM_011545469.1:c.2804-2A>C	XP_011543771.1:n.2804-2A>C
XM_006724469.3:c.2780-2A>C	XP_006724532.1:n.2780-2A>C
XM_006724470.3:c.2804-2A>C	XP_006724533.1:n.2804-2A>C
XM_006724474.3:c.2804-2A>C	XP_006724537.1:n.2804-2A>C
XM_011545468.2:c.2804-2A>C	XP_011543770.1:n.2804-2A>C
XM_017029328.1:c.2804-2A>C	XP_016884817.1:n.2804-2A>C
XM_017029329.1:c.2804-2A>C	XP_016884818.1:n.2804-2A>C
XM_017029330.2:c.2804-2A>C	XP_016884819.1:n.2804-2A>C
NM_000109.4:c.2780-2A>C	NP_000100.3:n.2780-2A>C
NM_004006.3:c.2804-2A>C MANE Select	NP_003997.2:n.2804-2A>C