Canonical Allele Identifier: CA10378500

Gene: DMD

Linked Data

• ClinVar Variation Id: 2185093
• ClinVar RCV Id: RCV002603641
• dbSNP Id: rs762866438
• ExAC: X:32305634 T / A
• gnomAD v2: X-32305634-T-A
• gnomAD v3: X-32287517-T-A
• gnomAD v4: X-32287517-T-A
• MyVariant Identifiers: chrX:g.32305634T>A (hg19) ; chrX:g.32287517T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287517T>A , CM000685.2:g.32287517T>A	GRCh38
NC_000023.10:g.32305634T>A , CM000685.1:g.32305634T>A	GRCh37
NC_000023.9:g.32215555T>A	NCBI36
NG_012232.1:g.1057093A>T , LRG_199:g.1057093A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.1136+12A>T	ENSP00000350765.3:n.1136+12A>T
ENST00000357033.9:c.6290+12A>T MANE Select	ENSP00000354923.3:n.6290+12A>T
ENST00000619831.5:c.2258+12A>T	ENSP00000479270.2:n.2258+12A>T
ENST00000357033.8:c.6290+12A>T	ENSP00000354923.3:n.6290+12A>T
ENST00000378677.6:c.6278+12A>T	ENSP00000367948.2:n.6278+12A>T
ENST00000488902.5:n.336-70454A>T
ENST00000619831.4:c.6278+12A>T	ENSP00000479270.1:n.6278+12A>T
ENST00000620040.4:c.6290+12A>T	ENSP00000478150.1:n.6290+12A>T
NM_000109.3:c.6266+12A>T	NP_000100.2:n.6266+12A>T
NM_004006.2:c.6290+12A>T , LRG_199t1:c.6290+12A>T	NP_003997.1:n.6290+12A>T
NM_004009.3:c.6278+12A>T	NP_004000.1:n.6278+12A>T
NM_004010.3:c.5921+12A>T	NP_004001.1:n.5921+12A>T
NM_004011.3:c.2267+12A>T	NP_004002.2:n.2267+12A>T
NM_004012.3:c.2258+12A>T	NP_004003.1:n.2258+12A>T
XM_006724468.2:c.6290+12A>T	XP_006724531.1:n.6290+12A>T
XM_006724469.2:c.6266+12A>T	XP_006724532.1:n.6266+12A>T
XM_006724470.2:c.6290+12A>T	XP_006724533.1:n.6290+12A>T
XM_006724471.2:c.6290+12A>T	XP_006724534.1:n.6290+12A>T
XM_006724472.2:c.6161+12A>T	XP_006724535.1:n.6161+12A>T
XM_006724473.2:c.6152+12A>T	XP_006724536.1:n.6152+12A>T
XM_006724474.2:c.6290+12A>T	XP_006724537.1:n.6290+12A>T
XM_006724475.2:c.6290+12A>T	XP_006724538.1:n.6290+12A>T
XM_011545467.1:c.6167+12A>T	XP_011543769.1:n.6167+12A>T
XM_011545468.1:c.6290+12A>T	XP_011543770.1:n.6290+12A>T
XM_006724469.3:c.6266+12A>T	XP_006724532.1:n.6266+12A>T
XM_006724470.3:c.6290+12A>T	XP_006724533.1:n.6290+12A>T
XM_006724474.3:c.6290+12A>T	XP_006724537.1:n.6290+12A>T
XM_011545468.2:c.6290+12A>T	XP_011543770.1:n.6290+12A>T
XM_017029328.1:c.6290+12A>T	XP_016884817.1:n.6290+12A>T
XM_017029329.1:c.6290+12A>T	XP_016884818.1:n.6290+12A>T
XM_017029330.2:c.6290+12A>T	XP_016884819.1:n.6290+12A>T
XM_017029331.1:c.464+12A>T	XP_016884820.1:n.464+12A>T
NM_000109.4:c.6266+12A>T	NP_000100.3:n.6266+12A>T
NM_004006.3:c.6290+12A>T MANE Select	NP_003997.2:n.6290+12A>T
NM_004011.4:c.2267+12A>T	NP_004002.3:n.2267+12A>T
NM_004012.4:c.2258+12A>T	NP_004003.2:n.2258+12A>T