Canonical Allele Identifier: CA412665816

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287569G>A , CM000685.2:g.32287569G>A	GRCh38
NC_000023.10:g.32305686G>A , CM000685.1:g.32305686G>A	GRCh37
NC_000023.9:g.32215607G>A	NCBI36
NG_012232.1:g.1057041C>T , LRG_199:g.1057041C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.6250C>T MANE Select	NP_003997.2:p.Gln2084Ter
ENST00000357033.9:c.6250C>T MANE Select	ENSP00000354923.3:p.Gln2084Ter
NM_000109.3:c.6226C>T	NP_000100.2:p.Gln2076Ter
NM_000109.4:c.6226C>T	NP_000100.3:p.Gln2076Ter
NM_004006.2:c.6250C>T , LRG_199t1:c.6250C>T	NP_003997.1:p.Gln2084Ter
NM_004009.3:c.6238C>T	NP_004000.1:p.Gln2080Ter
NM_004010.3:c.5881C>T	NP_004001.1:p.Gln1961Ter
NM_004011.3:c.2227C>T	NP_004002.2:p.Gln743Ter
NM_004011.4:c.2227C>T	NP_004002.3:p.Gln743Ter
NM_004012.3:c.2218C>T	NP_004003.1:p.Gln740Ter
NM_004012.4:c.2218C>T	NP_004003.2:p.Gln740Ter
ENST00000357033.8:c.6250C>T	ENSP00000354923.3:p.Gln2084Ter
ENST00000358062.7:c.1096C>T	ENSP00000350765.3:p.Gln366Ter
ENST00000378677.6:c.6238C>T	ENSP00000367948.2:p.Gln2080Ter
ENST00000488902.5:n.336-70506C>T
ENST00000619831.4:c.6238C>T	ENSP00000479270.1:p.Gln2080Ter
ENST00000619831.5:c.2218C>T	ENSP00000479270.2:p.Gln740Ter
ENST00000620040.4:c.6250C>T	ENSP00000478150.1:p.Gln2084Ter
XM_006724468.2:c.6250C>T	XP_006724531.1:p.Gln2084Ter
XM_006724469.2:c.6226C>T	XP_006724532.1:p.Gln2076Ter
XM_006724469.3:c.6226C>T	XP_006724532.1:p.Gln2076Ter
XM_006724470.2:c.6250C>T	XP_006724533.1:p.Gln2084Ter
XM_006724470.3:c.6250C>T	XP_006724533.1:p.Gln2084Ter
XM_006724471.2:c.6250C>T	XP_006724534.1:p.Gln2084Ter
XM_006724472.2:c.6121C>T	XP_006724535.1:p.Gln2041Ter
XM_006724473.2:c.6112C>T	XP_006724536.1:p.Gln2038Ter
XM_006724474.2:c.6250C>T	XP_006724537.1:p.Gln2084Ter
XM_006724474.3:c.6250C>T	XP_006724537.1:p.Gln2084Ter
XM_006724475.2:c.6250C>T	XP_006724538.1:p.Gln2084Ter
XM_011545467.1:c.6127C>T	XP_011543769.1:p.Gln2043Ter
XM_011545468.1:c.6250C>T	XP_011543770.1:p.Gln2084Ter
XM_011545468.2:c.6250C>T	XP_011543770.1:p.Gln2084Ter
XM_017029328.1:c.6250C>T	XP_016884817.1:p.Gln2084Ter
XM_017029329.1:c.6250C>T	XP_016884818.1:p.Gln2084Ter
XM_017029330.2:c.6250C>T	XP_016884819.1:p.Gln2084Ter
XM_017029331.1:c.424C>T	XP_016884820.1:p.Gln142Ter