Canonical Allele Identifier: CA10378520

Gene: DMD

Linked Data

• ClinVar Variation Id: 1301348
• ClinVar RCV Id: RCV001733385 ; RCV002538716 ; RCV003146230
• dbSNP Id: rs756696562
• ExAC: X:32305784 C / T
• gnomAD v2: X-32305784-C-T
• gnomAD v3: X-32287667-C-T
• gnomAD v4: X-32287667-C-T
• COSMIC: COSM2156415 ; COSM2156416 ; COSM2156417 ; COSM2156418
• MyVariant Identifiers: chrX:g.32305784C>T (hg19) ; chrX:g.32287667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287667C>T , CM000685.2:g.32287667C>T	GRCh38
NC_000023.10:g.32305784C>T , CM000685.1:g.32305784C>T	GRCh37
NC_000023.9:g.32215705C>T	NCBI36
NG_012232.1:g.1056943G>A , LRG_199:g.1056943G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.998G>A	ENSP00000350765.3:p.Arg333Gln
ENST00000357033.9:c.6152G>A MANE Select	ENSP00000354923.3:p.Arg2051Gln
ENST00000619831.5:c.2120G>A	ENSP00000479270.2:p.Arg707Gln
ENST00000357033.8:c.6152G>A	ENSP00000354923.3:p.Arg2051Gln
ENST00000378677.6:c.6140G>A	ENSP00000367948.2:p.Arg2047Gln
ENST00000488902.5:n.336-70604G>A
ENST00000619831.4:c.6140G>A	ENSP00000479270.1:p.Arg2047Gln
ENST00000620040.4:c.6152G>A	ENSP00000478150.1:p.Arg2051Gln
NM_000109.3:c.6128G>A	NP_000100.2:p.Arg2043Gln
NM_004006.2:c.6152G>A , LRG_199t1:c.6152G>A	NP_003997.1:p.Arg2051Gln
NM_004009.3:c.6140G>A	NP_004000.1:p.Arg2047Gln
NM_004010.3:c.5783G>A	NP_004001.1:p.Arg1928Gln
NM_004011.3:c.2129G>A	NP_004002.2:p.Arg710Gln
NM_004012.3:c.2120G>A	NP_004003.1:p.Arg707Gln
XM_006724468.2:c.6152G>A	XP_006724531.1:p.Arg2051Gln
XM_006724469.2:c.6128G>A	XP_006724532.1:p.Arg2043Gln
XM_006724470.2:c.6152G>A	XP_006724533.1:p.Arg2051Gln
XM_006724471.2:c.6152G>A	XP_006724534.1:p.Arg2051Gln
XM_006724472.2:c.6023G>A	XP_006724535.1:p.Arg2008Gln
XM_006724473.2:c.6014G>A	XP_006724536.1:p.Arg2005Gln
XM_006724474.2:c.6152G>A	XP_006724537.1:p.Arg2051Gln
XM_006724475.2:c.6152G>A	XP_006724538.1:p.Arg2051Gln
XM_011545467.1:c.6029G>A	XP_011543769.1:p.Arg2010Gln
XM_011545468.1:c.6152G>A	XP_011543770.1:p.Arg2051Gln
XM_006724469.3:c.6128G>A	XP_006724532.1:p.Arg2043Gln
XM_006724470.3:c.6152G>A	XP_006724533.1:p.Arg2051Gln
XM_006724474.3:c.6152G>A	XP_006724537.1:p.Arg2051Gln
XM_011545468.2:c.6152G>A	XP_011543770.1:p.Arg2051Gln
XM_017029328.1:c.6152G>A	XP_016884817.1:p.Arg2051Gln
XM_017029329.1:c.6152G>A	XP_016884818.1:p.Arg2051Gln
XM_017029330.2:c.6152G>A	XP_016884819.1:p.Arg2051Gln
XM_017029331.1:c.326G>A	XP_016884820.1:p.Arg109Gln
NM_000109.4:c.6128G>A	NP_000100.3:p.Arg2043Gln
NM_004006.3:c.6152G>A MANE Select	NP_003997.2:p.Arg2051Gln
NM_004011.4:c.2129G>A	NP_004002.3:p.Arg710Gln
NM_004012.4:c.2120G>A	NP_004003.2:p.Arg707Gln