Canonical Allele Identifier: CA10378742

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32362909C>T , CM000685.2:g.32362909C>T	GRCh38
NC_000023.10:g.32381026C>T , CM000685.1:g.32381026C>T	GRCh37
NC_000023.9:g.32290947C>T	NCBI36
NG_012232.1:g.981701G>A , LRG_199:g.981701G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.5204G>A MANE Select	NP_003997.2:p.Arg1735His
ENST00000357033.9:c.5204G>A MANE Select	ENSP00000354923.3:p.Arg1735His
NM_000109.3:c.5180G>A	NP_000100.2:p.Arg1727His
NM_000109.4:c.5180G>A	NP_000100.3:p.Arg1727His
NM_004006.2:c.5204G>A , LRG_199t1:c.5204G>A	NP_003997.1:p.Arg1735His
NM_004009.3:c.5192G>A	NP_004000.1:p.Arg1731His
NM_004010.3:c.4835G>A	NP_004001.1:p.Arg1612His
NM_004011.3:c.1181G>A	NP_004002.2:p.Arg394His
NM_004011.4:c.1181G>A	NP_004002.3:p.Arg394His
NM_004012.3:c.1172G>A	NP_004003.1:p.Arg391His
NM_004012.4:c.1172G>A	NP_004003.2:p.Arg391His
ENST00000357033.8:c.5204G>A	ENSP00000354923.3:p.Arg1735His
ENST00000358062.7:c.50G>A	ENSP00000350765.3:p.Arg17His
ENST00000378677.6:c.5192G>A	ENSP00000367948.2:p.Arg1731His
ENST00000488902.5:n.336-145846G>A
ENST00000619831.4:c.5192G>A	ENSP00000479270.1:p.Arg1731His
ENST00000619831.5:c.1172G>A	ENSP00000479270.2:p.Arg391His
ENST00000620040.4:c.5204G>A	ENSP00000478150.1:p.Arg1735His
XM_006724468.2:c.5204G>A	XP_006724531.1:p.Arg1735His
XM_006724469.2:c.5180G>A	XP_006724532.1:p.Arg1727His
XM_006724469.3:c.5180G>A	XP_006724532.1:p.Arg1727His
XM_006724470.2:c.5204G>A	XP_006724533.1:p.Arg1735His
XM_006724470.3:c.5204G>A	XP_006724533.1:p.Arg1735His
XM_006724471.2:c.5204G>A	XP_006724534.1:p.Arg1735His
XM_006724472.2:c.5075G>A	XP_006724535.1:p.Arg1692His
XM_006724473.2:c.5204G>A	XP_006724536.1:p.Arg1735His
XM_006724474.2:c.5204G>A	XP_006724537.1:p.Arg1735His
XM_006724474.3:c.5204G>A	XP_006724537.1:p.Arg1735His
XM_006724475.2:c.5204G>A	XP_006724538.1:p.Arg1735His
XM_011545467.1:c.5204G>A	XP_011543769.1:p.Arg1735His
XM_011545468.1:c.5204G>A	XP_011543770.1:p.Arg1735His
XM_011545468.2:c.5204G>A	XP_011543770.1:p.Arg1735His
XM_011545469.1:c.5204G>A	XP_011543771.1:p.Arg1735His
XM_017029328.1:c.5204G>A	XP_016884817.1:p.Arg1735His
XM_017029329.1:c.5204G>A	XP_016884818.1:p.Arg1735His
XM_017029330.2:c.5204G>A	XP_016884819.1:p.Arg1735His