Canonical Allele Identifier: CA515860887

Gene: DMD

Linked Data

• COSMIC: COSM6118865 ; COSM6118866 ; COSM6118867 ; COSM6118868
• MyVariant Identifiers: chrX:g.32305789T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287672T>A , CM000685.2:g.32287672T>A	GRCh38
NC_000023.10:g.32305789T>A , CM000685.1:g.32305789T>A	GRCh37
NC_000023.9:g.32215710T>A	NCBI36
NG_012232.1:g.1056938A>T , LRG_199:g.1056938A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.993A>T	ENSP00000350765.3:p.Ser331=
ENST00000357033.9:c.6147A>T MANE Select	ENSP00000354923.3:p.Ser2049=
ENST00000619831.5:c.2115A>T	ENSP00000479270.2:p.Ser705=
ENST00000357033.8:c.6147A>T	ENSP00000354923.3:p.Ser2049=
ENST00000378677.6:c.6135A>T	ENSP00000367948.2:p.Ser2045=
ENST00000488902.5:n.336-70609A>T
ENST00000619831.4:c.6135A>T	ENSP00000479270.1:p.Ser2045=
ENST00000620040.4:c.6147A>T	ENSP00000478150.1:p.Ser2049=
NM_000109.3:c.6123A>T	NP_000100.2:p.Ser2041=
NM_004006.2:c.6147A>T , LRG_199t1:c.6147A>T	NP_003997.1:p.Ser2049=
NM_004009.3:c.6135A>T	NP_004000.1:p.Ser2045=
NM_004010.3:c.5778A>T	NP_004001.1:p.Ser1926=
NM_004011.3:c.2124A>T	NP_004002.2:p.Ser708=
NM_004012.3:c.2115A>T	NP_004003.1:p.Ser705=
XM_006724468.2:c.6147A>T	XP_006724531.1:p.Ser2049=
XM_006724469.2:c.6123A>T	XP_006724532.1:p.Ser2041=
XM_006724470.2:c.6147A>T	XP_006724533.1:p.Ser2049=
XM_006724471.2:c.6147A>T	XP_006724534.1:p.Ser2049=
XM_006724472.2:c.6018A>T	XP_006724535.1:p.Ser2006=
XM_006724473.2:c.6009A>T	XP_006724536.1:p.Ser2003=
XM_006724474.2:c.6147A>T	XP_006724537.1:p.Ser2049=
XM_006724475.2:c.6147A>T	XP_006724538.1:p.Ser2049=
XM_011545467.1:c.6024A>T	XP_011543769.1:p.Ser2008=
XM_011545468.1:c.6147A>T	XP_011543770.1:p.Ser2049=
XM_006724469.3:c.6123A>T	XP_006724532.1:p.Ser2041=
XM_006724470.3:c.6147A>T	XP_006724533.1:p.Ser2049=
XM_006724474.3:c.6147A>T	XP_006724537.1:p.Ser2049=
XM_011545468.2:c.6147A>T	XP_011543770.1:p.Ser2049=
XM_017029328.1:c.6147A>T	XP_016884817.1:p.Ser2049=
XM_017029329.1:c.6147A>T	XP_016884818.1:p.Ser2049=
XM_017029330.2:c.6147A>T	XP_016884819.1:p.Ser2049=
XM_017029331.1:c.321A>T	XP_016884820.1:p.Ser107=
NM_000109.4:c.6123A>T	NP_000100.3:p.Ser2041=
NM_004006.3:c.6147A>T MANE Select	NP_003997.2:p.Ser2049=
NM_004011.4:c.2124A>T	NP_004002.3:p.Ser708=
NM_004012.4:c.2115A>T	NP_004003.2:p.Ser705=