Canonical Allele Identifier: CA2422760805

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343201T= , CM000685.2:g.32343201T=	GRCh38
NC_000023.10:g.32361318T= , CM000685.1:g.32361318T=	GRCh37
NC_000023.9:g.32271239T=	NCBI36
NG_012232.1:g.1001409A= , LRG_199:g.1001409A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.518A=	ENSP00000350765.3:p.Lys173=
ENST00000357033.9:c.5672A= MANE Select	ENSP00000354923.3:p.Lys1891=
ENST00000619831.5:c.1640A=	ENSP00000479270.2:p.Lys547=
ENST00000357033.8:c.5672A=	ENSP00000354923.3:p.Lys1891=
ENST00000378677.6:c.5660A=	ENSP00000367948.2:p.Lys1887=
ENST00000488902.5:n.336-126138A=
ENST00000493412.1:c.329A=	ENSP00000417725.1:p.Lys110=
ENST00000619831.4:c.5660A=	ENSP00000479270.1:p.Lys1887=
ENST00000620040.4:c.5672A=	ENSP00000478150.1:p.Lys1891=
NM_000109.3:c.5648A=	NP_000100.2:p.Lys1883=
NM_004006.2:c.5672A= , LRG_199t1:c.5672A=	NP_003997.1:p.Lys1891=
NM_004009.3:c.5660A=	NP_004000.1:p.Lys1887=
NM_004010.3:c.5303A=	NP_004001.1:p.Lys1768=
NM_004011.3:c.1649A=	NP_004002.2:p.Lys550=
NM_004012.3:c.1640A=	NP_004003.1:p.Lys547=
XM_006724468.2:c.5672A=	XP_006724531.1:p.Lys1891=
XM_006724469.2:c.5648A=	XP_006724532.1:p.Lys1883=
XM_006724470.2:c.5672A=	XP_006724533.1:p.Lys1891=
XM_006724471.2:c.5672A=	XP_006724534.1:p.Lys1891=
XM_006724472.2:c.5543A=	XP_006724535.1:p.Lys1848=
XM_006724473.2:c.5534A=	XP_006724536.1:p.Lys1845=
XM_006724474.2:c.5672A=	XP_006724537.1:p.Lys1891=
XM_006724475.2:c.5672A=	XP_006724538.1:p.Lys1891=
XM_011545467.1:c.5549A=	XP_011543769.1:p.Lys1850=
XM_011545468.1:c.5672A=	XP_011543770.1:p.Lys1891=
XM_011545469.1:c.5672A=	XP_011543771.1:p.Lys1891=
XM_006724469.3:c.5648A=	XP_006724532.1:p.Lys1883=
XM_006724470.3:c.5672A=	XP_006724533.1:p.Lys1891=
XM_006724474.3:c.5672A=	XP_006724537.1:p.Lys1891=
XM_011545468.2:c.5672A=	XP_011543770.1:p.Lys1891=
XM_017029328.1:c.5672A=	XP_016884817.1:p.Lys1891=
XM_017029329.1:c.5672A=	XP_016884818.1:p.Lys1891=
XM_017029330.2:c.5672A=	XP_016884819.1:p.Lys1891=
NM_000109.4:c.5648A=	NP_000100.3:p.Lys1883=
NM_004006.3:c.5672A= MANE Select	NP_003997.2:p.Lys1891=
NM_004011.4:c.1649A=	NP_004002.3:p.Lys550=
NM_004012.4:c.1640A=	NP_004003.2:p.Lys547=