Canonical Allele Identifier: CA2422815805

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32464612G= , CM000685.2:g.32464612G=	GRCh38
NC_000023.10:g.32482729G= , CM000685.1:g.32482729G=	GRCh37
NC_000023.9:g.32392650G=	NCBI36
NG_012232.1:g.879998C= , LRG_199:g.879998C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3457C=
ENST00000357033.9:c.3250C= MANE Select	ENSP00000354923.3:p.Leu1084=
ENST00000357033.8:c.3250C=	ENSP00000354923.3:p.Leu1084=
ENST00000378677.6:c.3238C=	ENSP00000367948.2:p.Leu1080=
ENST00000420596.5:c.94-99413C=	ENSP00000399897.1:n.94-99413C=
ENST00000448370.5:c.94-99902C=	ENSP00000388559.1:n.94-99902C=
ENST00000488902.5:n.336-247549C=
ENST00000619831.4:c.3238C=	ENSP00000479270.1:p.Leu1080=
ENST00000620040.4:c.3250C=	ENSP00000478150.1:p.Leu1084=
NM_000109.3:c.3226C=	NP_000100.2:p.Leu1076=
NM_004006.2:c.3250C= , LRG_199t1:c.3250C=	NP_003997.1:p.Leu1084=
NM_004009.3:c.3238C=	NP_004000.1:p.Leu1080=
NM_004010.3:c.2881C=	NP_004001.1:p.Leu961=
XM_006724468.2:c.3250C=	XP_006724531.1:p.Leu1084=
XM_006724469.2:c.3226C=	XP_006724532.1:p.Leu1076=
XM_006724470.2:c.3250C=	XP_006724533.1:p.Leu1084=
XM_006724471.2:c.3250C=	XP_006724534.1:p.Leu1084=
XM_006724472.2:c.3121C=	XP_006724535.1:p.Leu1041=
XM_006724473.2:c.3250C=	XP_006724536.1:p.Leu1084=
XM_006724474.2:c.3250C=	XP_006724537.1:p.Leu1084=
XM_006724475.2:c.3250C=	XP_006724538.1:p.Leu1084=
XM_011545467.1:c.3250C=	XP_011543769.1:p.Leu1084=
XM_011545468.1:c.3250C=	XP_011543770.1:p.Leu1084=
XM_011545469.1:c.3250C=	XP_011543771.1:p.Leu1084=
XM_006724469.3:c.3226C=	XP_006724532.1:p.Leu1076=
XM_006724470.3:c.3250C=	XP_006724533.1:p.Leu1084=
XM_006724474.3:c.3250C=	XP_006724537.1:p.Leu1084=
XM_011545468.2:c.3250C=	XP_011543770.1:p.Leu1084=
XM_017029328.1:c.3250C=	XP_016884817.1:p.Leu1084=
XM_017029329.1:c.3250C=	XP_016884818.1:p.Leu1084=
XM_017029330.2:c.3250C=	XP_016884819.1:p.Leu1084=
NM_000109.4:c.3226C=	NP_000100.3:p.Leu1076=
NM_004006.3:c.3250C= MANE Select	NP_003997.2:p.Leu1084=