Canonical Allele Identifier: CA412666728

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32468497C>T , CM000685.2:g.32468497C>T	GRCh38
NC_000023.10:g.32486614C>T , CM000685.1:g.32486614C>T	GRCh37
NC_000023.9:g.32396535C>T	NCBI36
NG_012232.1:g.876113G>A , LRG_199:g.876113G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.3162+1G>A MANE Select	NP_003997.2:n.3162+1G>A
ENST00000357033.9:c.3162+1G>A MANE Select	ENSP00000354923.3:n.3162+1G>A
NM_000109.3:c.3138+1G>A	NP_000100.2:n.3138+1G>A
NM_000109.4:c.3138+1G>A	NP_000100.3:n.3138+1G>A
NM_004006.2:c.3162+1G>A , LRG_199t1:c.3162+1G>A	NP_003997.1:n.3162+1G>A
NM_004009.3:c.3150+1G>A	NP_004000.1:n.3150+1G>A
NM_004010.3:c.2793+1G>A	NP_004001.1:n.2793+1G>A
ENST00000357033.8:c.3162+1G>A	ENSP00000354923.3:n.3162+1G>A
ENST00000378677.6:c.3150+1G>A	ENSP00000367948.2:n.3150+1G>A
ENST00000420596.5:c.94-103298G>A	ENSP00000399897.1:n.94-103298G>A
ENST00000448370.5:c.94-103787G>A	ENSP00000388559.1:n.94-103787G>A
ENST00000488902.5:n.336-251434G>A
ENST00000619831.4:c.3150+1G>A	ENSP00000479270.1:n.3150+1G>A
ENST00000620040.4:c.3162+1G>A	ENSP00000478150.1:n.3162+1G>A
ENST00000682899.1:n.3369+1G>A
XM_006724468.2:c.3162+1G>A	XP_006724531.1:n.3162+1G>A
XM_006724469.2:c.3138+1G>A	XP_006724532.1:n.3138+1G>A
XM_006724469.3:c.3138+1G>A	XP_006724532.1:n.3138+1G>A
XM_006724470.2:c.3162+1G>A	XP_006724533.1:n.3162+1G>A
XM_006724470.3:c.3162+1G>A	XP_006724533.1:n.3162+1G>A
XM_006724471.2:c.3162+1G>A	XP_006724534.1:n.3162+1G>A
XM_006724472.2:c.3033+1G>A	XP_006724535.1:n.3033+1G>A
XM_006724473.2:c.3162+1G>A	XP_006724536.1:n.3162+1G>A
XM_006724474.2:c.3162+1G>A	XP_006724537.1:n.3162+1G>A
XM_006724474.3:c.3162+1G>A	XP_006724537.1:n.3162+1G>A
XM_006724475.2:c.3162+1G>A	XP_006724538.1:n.3162+1G>A
XM_011545467.1:c.3162+1G>A	XP_011543769.1:n.3162+1G>A
XM_011545468.1:c.3162+1G>A	XP_011543770.1:n.3162+1G>A
XM_011545468.2:c.3162+1G>A	XP_011543770.1:n.3162+1G>A
XM_011545469.1:c.3162+1G>A	XP_011543771.1:n.3162+1G>A
XM_017029328.1:c.3162+1G>A	XP_016884817.1:n.3162+1G>A
XM_017029329.1:c.3162+1G>A	XP_016884818.1:n.3162+1G>A
XM_017029330.2:c.3162+1G>A	XP_016884819.1:n.3162+1G>A