Canonical Allele Identifier: CA267090

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32310199A>T , CM000685.2:g.32310199A>T	GRCh38
NC_000023.10:g.32328316A>T , CM000685.1:g.32328316A>T	GRCh37
NC_000023.9:g.32238237A>T	NCBI36
NG_012232.1:g.1034411T>A , LRG_199:g.1034411T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.6000T>A MANE Select	NP_003997.2:p.Tyr2000Ter
ENST00000357033.9:c.6000T>A MANE Select	ENSP00000354923.3:p.Tyr2000Ter
NM_000109.3:c.5976T>A	NP_000100.2:p.Tyr1992Ter
NM_000109.4:c.5976T>A	NP_000100.3:p.Tyr1992Ter
NM_004006.2:c.6000T>A , LRG_199t1:c.6000T>A	NP_003997.1:p.Tyr2000Ter
NM_004009.3:c.5988T>A	NP_004000.1:p.Tyr1996Ter
NM_004010.3:c.5631T>A	NP_004001.1:p.Tyr1877Ter
NM_004011.3:c.1977T>A	NP_004002.2:p.Tyr659Ter
NM_004011.4:c.1977T>A	NP_004002.3:p.Tyr659Ter
NM_004012.3:c.1968T>A	NP_004003.1:p.Tyr656Ter
NM_004012.4:c.1968T>A	NP_004003.2:p.Tyr656Ter
ENST00000357033.8:c.6000T>A	ENSP00000354923.3:p.Tyr2000Ter
ENST00000358062.7:c.846T>A	ENSP00000350765.3:p.Tyr282Ter
ENST00000378677.6:c.5988T>A	ENSP00000367948.2:p.Tyr1996Ter
ENST00000488902.5:n.336-93136T>A
ENST00000619831.4:c.5988T>A	ENSP00000479270.1:p.Tyr1996Ter
ENST00000619831.5:c.1968T>A	ENSP00000479270.2:p.Tyr656Ter
ENST00000620040.4:c.6000T>A	ENSP00000478150.1:p.Tyr2000Ter
XM_006724468.2:c.6000T>A	XP_006724531.1:p.Tyr2000Ter
XM_006724469.2:c.5976T>A	XP_006724532.1:p.Tyr1992Ter
XM_006724469.3:c.5976T>A	XP_006724532.1:p.Tyr1992Ter
XM_006724470.2:c.6000T>A	XP_006724533.1:p.Tyr2000Ter
XM_006724470.3:c.6000T>A	XP_006724533.1:p.Tyr2000Ter
XM_006724471.2:c.6000T>A	XP_006724534.1:p.Tyr2000Ter
XM_006724472.2:c.5871T>A	XP_006724535.1:p.Tyr1957Ter
XM_006724473.2:c.5862T>A	XP_006724536.1:p.Tyr1954Ter
XM_006724474.2:c.6000T>A	XP_006724537.1:p.Tyr2000Ter
XM_006724474.3:c.6000T>A	XP_006724537.1:p.Tyr2000Ter
XM_006724475.2:c.6000T>A	XP_006724538.1:p.Tyr2000Ter
XM_011545467.1:c.5877T>A	XP_011543769.1:p.Tyr1959Ter
XM_011545468.1:c.6000T>A	XP_011543770.1:p.Tyr2000Ter
XM_011545468.2:c.6000T>A	XP_011543770.1:p.Tyr2000Ter
XM_017029328.1:c.6000T>A	XP_016884817.1:p.Tyr2000Ter
XM_017029329.1:c.6000T>A	XP_016884818.1:p.Tyr2000Ter
XM_017029330.2:c.6000T>A	XP_016884819.1:p.Tyr2000Ter
XM_017029331.1:c.174T>A	XP_016884820.1:p.Tyr58Ter