Canonical Allele Identifier: CA267083

Gene: DMD

Linked Data

• ClinVar Variation Id: 94684
• ClinVar RCV Id: RCV000179875 ; RCV000338327 ; RCV001274385 ; RCV002498417
• dbSNP Id: rs398123999
• MyVariant Identifiers: chrX:g.32827676G>A (hg19) ; chrX:g.32809559G>A (hg38)
• PubMed: PMID:15643612 ; PMID:19074751 ; PMID:19783145 ; PMID:21969337

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32809559G>A , CM000685.2:g.32809559G>A	GRCh38
NC_000023.10:g.32827676G>A , CM000685.1:g.32827676G>A	GRCh37
NC_000023.9:g.32737597G>A	NCBI36
NG_012232.1:g.535051C>T , LRG_199:g.535051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682071.1:c.214C>T	ENSP00000508133.1:p.Arg72Ter
ENST00000682437.1:n.907C>T
ENST00000682870.1:n.768C>T
ENST00000682899.1:n.790C>T
ENST00000682924.1:c.583C>T	ENSP00000508187.1:p.Arg195Ter
ENST00000683309.1:n.767C>T
ENST00000683658.1:n.928C>T
ENST00000683985.1:n.790C>T
ENST00000684056.1:n.767C>T
ENST00000684165.1:n.790C>T
ENST00000684237.1:c.583C>T	ENSP00000507277.1:p.Arg195Ter
ENST00000684292.1:n.790C>T
ENST00000684660.1:n.768C>T
ENST00000288447.9:c.559C>T	ENSP00000288447.4:p.Arg187Ter
ENST00000357033.9:c.583C>T MANE Select	ENSP00000354923.3:p.Arg195Ter
ENST00000288447.8:c.559C>T	ENSP00000288447.4:p.Arg187Ter
ENST00000357033.8:c.583C>T	ENSP00000354923.3:p.Arg195Ter
ENST00000378677.6:c.571C>T	ENSP00000367948.2:p.Arg191Ter
ENST00000420596.5:c.93+210580C>T	ENSP00000399897.1:n.93+210580C>T
ENST00000447523.1:c.246+13736C>T	ENSP00000395904.1:n.246+13736C>T
ENST00000448370.5:c.93+210580C>T	ENSP00000388559.1:n.93+210580C>T
ENST00000480751.1:n.86+6909C>T
ENST00000488902.5:n.335+210580C>T
ENST00000619831.4:c.571C>T	ENSP00000479270.1:p.Arg191Ter
ENST00000620040.4:c.583C>T	ENSP00000478150.1:p.Arg195Ter
NM_000109.3:c.559C>T	NP_000100.2:p.Arg187Ter
NM_004006.2:c.583C>T , LRG_199t1:c.583C>T	NP_003997.1:p.Arg195Ter
NM_004009.3:c.571C>T	NP_004000.1:p.Arg191Ter
NM_004010.3:c.214C>T	NP_004001.1:p.Arg72Ter
XM_006724468.2:c.583C>T	XP_006724531.1:p.Arg195Ter
XM_006724469.2:c.559C>T	XP_006724532.1:p.Arg187Ter
XM_006724470.2:c.583C>T	XP_006724533.1:p.Arg195Ter
XM_006724471.2:c.583C>T	XP_006724534.1:p.Arg195Ter
XM_006724472.2:c.583C>T	XP_006724535.1:p.Arg195Ter
XM_006724473.2:c.583C>T	XP_006724536.1:p.Arg195Ter
XM_006724474.2:c.583C>T	XP_006724537.1:p.Arg195Ter
XM_006724475.2:c.583C>T	XP_006724538.1:p.Arg195Ter
XM_011545467.1:c.583C>T	XP_011543769.1:p.Arg195Ter
XM_011545468.1:c.583C>T	XP_011543770.1:p.Arg195Ter
XM_011545469.1:c.583C>T	XP_011543771.1:p.Arg195Ter
XM_006724469.3:c.559C>T	XP_006724532.1:p.Arg187Ter
XM_006724470.3:c.583C>T	XP_006724533.1:p.Arg195Ter
XM_006724474.3:c.583C>T	XP_006724537.1:p.Arg195Ter
XM_011545468.2:c.583C>T	XP_011543770.1:p.Arg195Ter
XM_017029328.1:c.583C>T	XP_016884817.1:p.Arg195Ter
XM_017029329.1:c.583C>T	XP_016884818.1:p.Arg195Ter
XM_017029330.2:c.583C>T	XP_016884819.1:p.Arg195Ter
NM_000109.4:c.559C>T	NP_000100.3:p.Arg187Ter
NM_004006.3:c.583C>T MANE Select	NP_003997.2:p.Arg195Ter