Canonical Allele Identifier: CA10379924

Gene: DMD

Linked Data

• ClinVar Variation Id: 1674383
• ClinVar RCV Id: RCV002206632
• dbSNP Id: rs780061758
• ExAC: X:32662233 A / G
• gnomAD v2: X-32662233-A-G
• gnomAD v3: X-32644116-A-G
• gnomAD v4: X-32644116-A-G
• MyVariant Identifiers: chrX:g.32662233A>G (hg19) ; chrX:g.32644116A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32644116A>G , CM000685.2:g.32644116A>G	GRCh38
NC_000023.10:g.32662233A>G , CM000685.1:g.32662233A>G	GRCh37
NC_000023.9:g.32572154A>G	NCBI36
NG_012232.1:g.700494T>C , LRG_199:g.700494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682071.1:c.962+16T>C	ENSP00000508133.1:n.962+16T>C
ENST00000682899.1:n.1538+16T>C
ENST00000682924.1:c.1331+16T>C	ENSP00000508187.1:n.1331+16T>C
ENST00000683985.1:n.1538+16T>C
ENST00000684165.1:n.1538+16T>C
ENST00000684237.1:c.1202+16T>C	ENSP00000507277.1:n.1202+16T>C
ENST00000684292.1:n.1538+16T>C
ENST00000288447.9:c.1307+16T>C	ENSP00000288447.4:n.1307+16T>C
ENST00000357033.9:c.1331+16T>C MANE Select	ENSP00000354923.3:n.1331+16T>C
ENST00000288447.8:c.1307+16T>C	ENSP00000288447.4:n.1307+16T>C
ENST00000357033.8:c.1331+16T>C	ENSP00000354923.3:n.1331+16T>C
ENST00000378677.6:c.1319+16T>C	ENSP00000367948.2:n.1319+16T>C
ENST00000420596.5:c.94-278917T>C	ENSP00000399897.1:n.94-278917T>C
ENST00000447523.1:c.247-70270T>C	ENSP00000395904.1:n.247-70270T>C
ENST00000448370.5:c.94-279406T>C	ENSP00000388559.1:n.94-279406T>C
ENST00000480751.1:n.87-70270T>C
ENST00000488902.5:n.335+376023T>C
ENST00000619831.4:c.1319+16T>C	ENSP00000479270.1:n.1319+16T>C
ENST00000620040.4:c.1331+16T>C	ENSP00000478150.1:n.1331+16T>C
NM_000109.3:c.1307+16T>C	NP_000100.2:n.1307+16T>C
NM_004006.2:c.1331+16T>C , LRG_199t1:c.1331+16T>C	NP_003997.1:n.1331+16T>C
NM_004009.3:c.1319+16T>C	NP_004000.1:n.1319+16T>C
NM_004010.3:c.962+16T>C	NP_004001.1:n.962+16T>C
XM_006724468.2:c.1331+16T>C	XP_006724531.1:n.1331+16T>C
XM_006724469.2:c.1307+16T>C	XP_006724532.1:n.1307+16T>C
XM_006724470.2:c.1331+16T>C	XP_006724533.1:n.1331+16T>C
XM_006724471.2:c.1331+16T>C	XP_006724534.1:n.1331+16T>C
XM_006724472.2:c.1202+16T>C	XP_006724535.1:n.1202+16T>C
XM_006724473.2:c.1331+16T>C	XP_006724536.1:n.1331+16T>C
XM_006724474.2:c.1331+16T>C	XP_006724537.1:n.1331+16T>C
XM_006724475.2:c.1331+16T>C	XP_006724538.1:n.1331+16T>C
XM_011545467.1:c.1331+16T>C	XP_011543769.1:n.1331+16T>C
XM_011545468.1:c.1331+16T>C	XP_011543770.1:n.1331+16T>C
XM_011545469.1:c.1331+16T>C	XP_011543771.1:n.1331+16T>C
XM_006724469.3:c.1307+16T>C	XP_006724532.1:n.1307+16T>C
XM_006724470.3:c.1331+16T>C	XP_006724533.1:n.1331+16T>C
XM_006724474.3:c.1331+16T>C	XP_006724537.1:n.1331+16T>C
XM_011545468.2:c.1331+16T>C	XP_011543770.1:n.1331+16T>C
XM_017029328.1:c.1331+16T>C	XP_016884817.1:n.1331+16T>C
XM_017029329.1:c.1331+16T>C	XP_016884818.1:n.1331+16T>C
XM_017029330.2:c.1331+16T>C	XP_016884819.1:n.1331+16T>C
NM_000109.4:c.1307+16T>C	NP_000100.3:n.1307+16T>C
NM_004006.3:c.1331+16T>C MANE Select	NP_003997.2:n.1331+16T>C