Canonical Allele Identifier: CA10378521

Gene: DMD

Linked Data

• ClinVar Variation Id: 380270
• ClinVar RCV Id: RCV000439362 ; RCV000459246 ; RCV001833527
• dbSNP Id: rs140791274
• ExAC: X:32305785 G / A
• gnomAD v2: X-32305785-G-A
• gnomAD v3: X-32287668-G-A
• gnomAD v4: X-32287668-G-A
• COSMIC: COSM756204 ; COSM756205 ; COSM756206 ; COSM1151606
• MyVariant Identifiers: chrX:g.32305785G>A (hg19) ; chrX:g.32287668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287668G>A , CM000685.2:g.32287668G>A	GRCh38
NC_000023.10:g.32305785G>A , CM000685.1:g.32305785G>A	GRCh37
NC_000023.9:g.32215706G>A	NCBI36
NG_012232.1:g.1056942C>T , LRG_199:g.1056942C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.997C>T	ENSP00000350765.3:p.Arg333Trp
ENST00000357033.9:c.6151C>T MANE Select	ENSP00000354923.3:p.Arg2051Trp
ENST00000619831.5:c.2119C>T	ENSP00000479270.2:p.Arg707Trp
ENST00000357033.8:c.6151C>T	ENSP00000354923.3:p.Arg2051Trp
ENST00000378677.6:c.6139C>T	ENSP00000367948.2:p.Arg2047Trp
ENST00000488902.5:n.336-70605C>T
ENST00000619831.4:c.6139C>T	ENSP00000479270.1:p.Arg2047Trp
ENST00000620040.4:c.6151C>T	ENSP00000478150.1:p.Arg2051Trp
NM_000109.3:c.6127C>T	NP_000100.2:p.Arg2043Trp
NM_004006.2:c.6151C>T , LRG_199t1:c.6151C>T	NP_003997.1:p.Arg2051Trp
NM_004009.3:c.6139C>T	NP_004000.1:p.Arg2047Trp
NM_004010.3:c.5782C>T	NP_004001.1:p.Arg1928Trp
NM_004011.3:c.2128C>T	NP_004002.2:p.Arg710Trp
NM_004012.3:c.2119C>T	NP_004003.1:p.Arg707Trp
XM_006724468.2:c.6151C>T	XP_006724531.1:p.Arg2051Trp
XM_006724469.2:c.6127C>T	XP_006724532.1:p.Arg2043Trp
XM_006724470.2:c.6151C>T	XP_006724533.1:p.Arg2051Trp
XM_006724471.2:c.6151C>T	XP_006724534.1:p.Arg2051Trp
XM_006724472.2:c.6022C>T	XP_006724535.1:p.Arg2008Trp
XM_006724473.2:c.6013C>T	XP_006724536.1:p.Arg2005Trp
XM_006724474.2:c.6151C>T	XP_006724537.1:p.Arg2051Trp
XM_006724475.2:c.6151C>T	XP_006724538.1:p.Arg2051Trp
XM_011545467.1:c.6028C>T	XP_011543769.1:p.Arg2010Trp
XM_011545468.1:c.6151C>T	XP_011543770.1:p.Arg2051Trp
XM_006724469.3:c.6127C>T	XP_006724532.1:p.Arg2043Trp
XM_006724470.3:c.6151C>T	XP_006724533.1:p.Arg2051Trp
XM_006724474.3:c.6151C>T	XP_006724537.1:p.Arg2051Trp
XM_011545468.2:c.6151C>T	XP_011543770.1:p.Arg2051Trp
XM_017029328.1:c.6151C>T	XP_016884817.1:p.Arg2051Trp
XM_017029329.1:c.6151C>T	XP_016884818.1:p.Arg2051Trp
XM_017029330.2:c.6151C>T	XP_016884819.1:p.Arg2051Trp
XM_017029331.1:c.325C>T	XP_016884820.1:p.Arg109Trp
NM_000109.4:c.6127C>T	NP_000100.3:p.Arg2043Trp
NM_004006.3:c.6151C>T MANE Select	NP_003997.2:p.Arg2051Trp
NM_004011.4:c.2128C>T	NP_004002.3:p.Arg710Trp
NM_004012.4:c.2119C>T	NP_004003.2:p.Arg707Trp