Canonical Allele Identifier: CA2422760789

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343175A= , CM000685.2:g.32343175A=	GRCh38
NC_000023.10:g.32361292A= , CM000685.1:g.32361292A=	GRCh37
NC_000023.9:g.32271213A=	NCBI36
NG_012232.1:g.1001435T= , LRG_199:g.1001435T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.544T=	ENSP00000350765.3:p.Leu182=
ENST00000357033.9:c.5698T= MANE Select	ENSP00000354923.3:p.Leu1900=
ENST00000619831.5:c.1666T=	ENSP00000479270.2:p.Leu556=
ENST00000357033.8:c.5698T=	ENSP00000354923.3:p.Leu1900=
ENST00000378677.6:c.5686T=	ENSP00000367948.2:p.Leu1896=
ENST00000488902.5:n.336-126112T=
ENST00000493412.1:c.355T=	ENSP00000417725.1:p.Leu119=
ENST00000619831.4:c.5686T=	ENSP00000479270.1:p.Leu1896=
ENST00000620040.4:c.5698T=	ENSP00000478150.1:p.Leu1900=
NM_000109.3:c.5674T=	NP_000100.2:p.Leu1892=
NM_004006.2:c.5698T= , LRG_199t1:c.5698T=	NP_003997.1:p.Leu1900=
NM_004009.3:c.5686T=	NP_004000.1:p.Leu1896=
NM_004010.3:c.5329T=	NP_004001.1:p.Leu1777=
NM_004011.3:c.1675T=	NP_004002.2:p.Leu559=
NM_004012.3:c.1666T=	NP_004003.1:p.Leu556=
XM_006724468.2:c.5698T=	XP_006724531.1:p.Leu1900=
XM_006724469.2:c.5674T=	XP_006724532.1:p.Leu1892=
XM_006724470.2:c.5698T=	XP_006724533.1:p.Leu1900=
XM_006724471.2:c.5698T=	XP_006724534.1:p.Leu1900=
XM_006724472.2:c.5569T=	XP_006724535.1:p.Leu1857=
XM_006724473.2:c.5560T=	XP_006724536.1:p.Leu1854=
XM_006724474.2:c.5698T=	XP_006724537.1:p.Leu1900=
XM_006724475.2:c.5698T=	XP_006724538.1:p.Leu1900=
XM_011545467.1:c.5575T=	XP_011543769.1:p.Leu1859=
XM_011545468.1:c.5698T=	XP_011543770.1:p.Leu1900=
XM_011545469.1:c.5698T=	XP_011543771.1:p.Leu1900=
XM_006724469.3:c.5674T=	XP_006724532.1:p.Leu1892=
XM_006724470.3:c.5698T=	XP_006724533.1:p.Leu1900=
XM_006724474.3:c.5698T=	XP_006724537.1:p.Leu1900=
XM_011545468.2:c.5698T=	XP_011543770.1:p.Leu1900=
XM_017029328.1:c.5698T=	XP_016884817.1:p.Leu1900=
XM_017029329.1:c.5698T=	XP_016884818.1:p.Leu1900=
XM_017029330.2:c.5698T=	XP_016884819.1:p.Leu1900=
NM_000109.4:c.5674T=	NP_000100.3:p.Leu1892=
NM_004006.3:c.5698T= MANE Select	NP_003997.2:p.Leu1900=
NM_004011.4:c.1675T=	NP_004002.3:p.Leu559=
NM_004012.4:c.1666T=	NP_004003.2:p.Leu556=