Canonical Allele Identifier: CA2422736433
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32287618C= , CM000685.2:g.32287618C= GRCh38
NC_000023.10:g.32305735C= , CM000685.1:g.32305735C= GRCh37
NC_000023.9:g.32215656C= NCBI36
NG_012232.1:g.1056992G= , LRG_199:g.1056992G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.1047G= ENSP00000350765.3:p.Thr349=
ENST00000357033.9:c.6201G= MANE Select ENSP00000354923.3:p.Thr2067=
ENST00000619831.5:c.2169G= ENSP00000479270.2:p.Thr723=
ENST00000357033.8:c.6201G= ENSP00000354923.3:p.Thr2067=
ENST00000378677.6:c.6189G= ENSP00000367948.2:p.Thr2063=
ENST00000488902.5:n.336-70555G=
ENST00000619831.4:c.6189G= ENSP00000479270.1:p.Thr2063=
ENST00000620040.4:c.6201G= ENSP00000478150.1:p.Thr2067=
NM_000109.3:c.6177G= NP_000100.2:p.Thr2059=
NM_004006.2:c.6201G= , LRG_199t1:c.6201G= NP_003997.1:p.Thr2067=
NM_004009.3:c.6189G= NP_004000.1:p.Thr2063=
NM_004010.3:c.5832G= NP_004001.1:p.Thr1944=
NM_004011.3:c.2178G= NP_004002.2:p.Thr726=
NM_004012.3:c.2169G= NP_004003.1:p.Thr723=
XM_006724468.2:c.6201G= XP_006724531.1:p.Thr2067=
XM_006724469.2:c.6177G= XP_006724532.1:p.Thr2059=
XM_006724470.2:c.6201G= XP_006724533.1:p.Thr2067=
XM_006724471.2:c.6201G= XP_006724534.1:p.Thr2067=
XM_006724472.2:c.6072G= XP_006724535.1:p.Thr2024=
XM_006724473.2:c.6063G= XP_006724536.1:p.Thr2021=
XM_006724474.2:c.6201G= XP_006724537.1:p.Thr2067=
XM_006724475.2:c.6201G= XP_006724538.1:p.Thr2067=
XM_011545467.1:c.6078G= XP_011543769.1:p.Thr2026=
XM_011545468.1:c.6201G= XP_011543770.1:p.Thr2067=
XM_006724469.3:c.6177G= XP_006724532.1:p.Thr2059=
XM_006724470.3:c.6201G= XP_006724533.1:p.Thr2067=
XM_006724474.3:c.6201G= XP_006724537.1:p.Thr2067=
XM_011545468.2:c.6201G= XP_011543770.1:p.Thr2067=
XM_017029328.1:c.6201G= XP_016884817.1:p.Thr2067=
XM_017029329.1:c.6201G= XP_016884818.1:p.Thr2067=
XM_017029330.2:c.6201G= XP_016884819.1:p.Thr2067=
XM_017029331.1:c.375G= XP_016884820.1:p.Thr125=
NM_000109.4:c.6177G= NP_000100.3:p.Thr2059=
NM_004006.3:c.6201G= MANE Select NP_003997.2:p.Thr2067=
NM_004011.4:c.2178G= NP_004002.3:p.Thr726=
NM_004012.4:c.2169G= NP_004003.2:p.Thr723=