Canonical Allele Identifier: CA327994372

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32362926T>C , CM000685.2:g.32362926T>C	GRCh38
NC_000023.10:g.32381043T>C , CM000685.1:g.32381043T>C	GRCh37
NC_000023.9:g.32290964T>C	NCBI36
NG_012232.1:g.981684A>G , LRG_199:g.981684A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.5187A>G MANE Select	NP_003997.2:p.Pro1729=
ENST00000357033.9:c.5187A>G MANE Select	ENSP00000354923.3:p.Pro1729=
NM_000109.3:c.5163A>G	NP_000100.2:p.Pro1721=
NM_000109.4:c.5163A>G	NP_000100.3:p.Pro1721=
NM_004006.2:c.5187A>G , LRG_199t1:c.5187A>G	NP_003997.1:p.Pro1729=
NM_004009.3:c.5175A>G	NP_004000.1:p.Pro1725=
NM_004010.3:c.4818A>G	NP_004001.1:p.Pro1606=
NM_004011.3:c.1164A>G	NP_004002.2:p.Pro388=
NM_004011.4:c.1164A>G	NP_004002.3:p.Pro388=
NM_004012.3:c.1155A>G	NP_004003.1:p.Pro385=
NM_004012.4:c.1155A>G	NP_004003.2:p.Pro385=
ENST00000357033.8:c.5187A>G	ENSP00000354923.3:p.Pro1729=
ENST00000358062.7:c.33A>G	ENSP00000350765.3:p.Pro11=
ENST00000378677.6:c.5175A>G	ENSP00000367948.2:p.Pro1725=
ENST00000488902.5:n.336-145863A>G
ENST00000619831.4:c.5175A>G	ENSP00000479270.1:p.Pro1725=
ENST00000619831.5:c.1155A>G	ENSP00000479270.2:p.Pro385=
ENST00000620040.4:c.5187A>G	ENSP00000478150.1:p.Pro1729=
XM_006724468.2:c.5187A>G	XP_006724531.1:p.Pro1729=
XM_006724469.2:c.5163A>G	XP_006724532.1:p.Pro1721=
XM_006724469.3:c.5163A>G	XP_006724532.1:p.Pro1721=
XM_006724470.2:c.5187A>G	XP_006724533.1:p.Pro1729=
XM_006724470.3:c.5187A>G	XP_006724533.1:p.Pro1729=
XM_006724471.2:c.5187A>G	XP_006724534.1:p.Pro1729=
XM_006724472.2:c.5058A>G	XP_006724535.1:p.Pro1686=
XM_006724473.2:c.5187A>G	XP_006724536.1:p.Pro1729=
XM_006724474.2:c.5187A>G	XP_006724537.1:p.Pro1729=
XM_006724474.3:c.5187A>G	XP_006724537.1:p.Pro1729=
XM_006724475.2:c.5187A>G	XP_006724538.1:p.Pro1729=
XM_011545467.1:c.5187A>G	XP_011543769.1:p.Pro1729=
XM_011545468.1:c.5187A>G	XP_011543770.1:p.Pro1729=
XM_011545468.2:c.5187A>G	XP_011543770.1:p.Pro1729=
XM_011545469.1:c.5187A>G	XP_011543771.1:p.Pro1729=
XM_017029328.1:c.5187A>G	XP_016884817.1:p.Pro1729=
XM_017029329.1:c.5187A>G	XP_016884818.1:p.Pro1729=
XM_017029330.2:c.5187A>G	XP_016884819.1:p.Pro1729=