Canonical Allele Identifier: CA412665384

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32342283C>A , CM000685.2:g.32342283C>A	GRCh38
NC_000023.10:g.32360400C>A , CM000685.1:g.32360400C>A	GRCh37
NC_000023.9:g.32270321C>A	NCBI36
NG_012232.1:g.1002327G>T , LRG_199:g.1002327G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.5740-1G>T MANE Select	NP_003997.2:n.5740-1G>T
ENST00000357033.9:c.5740-1G>T MANE Select	ENSP00000354923.3:n.5740-1G>T
NM_000109.3:c.5716-1G>T	NP_000100.2:n.5716-1G>T
NM_000109.4:c.5716-1G>T	NP_000100.3:n.5716-1G>T
NM_004006.2:c.5740-1G>T , LRG_199t1:c.5740-1G>T	NP_003997.1:n.5740-1G>T
NM_004009.3:c.5728-1G>T	NP_004000.1:n.5728-1G>T
NM_004010.3:c.5371-1G>T	NP_004001.1:n.5371-1G>T
NM_004011.3:c.1717-1G>T	NP_004002.2:n.1717-1G>T
NM_004011.4:c.1717-1G>T	NP_004002.3:n.1717-1G>T
NM_004012.3:c.1708-1G>T	NP_004003.1:n.1708-1G>T
NM_004012.4:c.1708-1G>T	NP_004003.2:n.1708-1G>T
ENST00000357033.8:c.5740-1G>T	ENSP00000354923.3:n.5740-1G>T
ENST00000358062.7:c.586-1G>T	ENSP00000350765.3:n.586-1G>T
ENST00000378677.6:c.5728-1G>T	ENSP00000367948.2:n.5728-1G>T
ENST00000488902.5:n.336-125220G>T
ENST00000619831.4:c.5728-1G>T	ENSP00000479270.1:n.5728-1G>T
ENST00000619831.5:c.1708-1G>T	ENSP00000479270.2:n.1708-1G>T
ENST00000620040.4:c.5740-1G>T	ENSP00000478150.1:n.5740-1G>T
XM_006724468.2:c.5740-1G>T	XP_006724531.1:n.5740-1G>T
XM_006724469.2:c.5716-1G>T	XP_006724532.1:n.5716-1G>T
XM_006724469.3:c.5716-1G>T	XP_006724532.1:n.5716-1G>T
XM_006724470.2:c.5740-1G>T	XP_006724533.1:n.5740-1G>T
XM_006724470.3:c.5740-1G>T	XP_006724533.1:n.5740-1G>T
XM_006724471.2:c.5740-1G>T	XP_006724534.1:n.5740-1G>T
XM_006724472.2:c.5611-1G>T	XP_006724535.1:n.5611-1G>T
XM_006724473.2:c.5602-1G>T	XP_006724536.1:n.5602-1G>T
XM_006724474.2:c.5740-1G>T	XP_006724537.1:n.5740-1G>T
XM_006724474.3:c.5740-1G>T	XP_006724537.1:n.5740-1G>T
XM_006724475.2:c.5740-1G>T	XP_006724538.1:n.5740-1G>T
XM_011545467.1:c.5617-1G>T	XP_011543769.1:n.5617-1G>T
XM_011545468.1:c.5740-1G>T	XP_011543770.1:n.5740-1G>T
XM_011545468.2:c.5740-1G>T	XP_011543770.1:n.5740-1G>T
XM_017029328.1:c.5740-1G>T	XP_016884817.1:n.5740-1G>T
XM_017029329.1:c.5740-1G>T	XP_016884818.1:n.5740-1G>T
XM_017029330.2:c.5740-1G>T	XP_016884819.1:n.5740-1G>T
XM_017029331.1:c.-88G>T	XP_016884820.1:n.-88G>T