Canonical Allele Identifier: CA515860869
Gene: DMD HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.32305783C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32287666C>A , CM000685.2:g.32287666C>A GRCh38
NC_000023.10:g.32305783C>A , CM000685.1:g.32305783C>A GRCh37
NC_000023.9:g.32215704C>A NCBI36
NG_012232.1:g.1056944G>T , LRG_199:g.1056944G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.999G>T ENSP00000350765.3:p.Arg333=
ENST00000357033.9:c.6153G>T MANE Select ENSP00000354923.3:p.Arg2051=
ENST00000619831.5:c.2121G>T ENSP00000479270.2:p.Arg707=
ENST00000357033.8:c.6153G>T ENSP00000354923.3:p.Arg2051=
ENST00000378677.6:c.6141G>T ENSP00000367948.2:p.Arg2047=
ENST00000488902.5:n.336-70603G>T
ENST00000619831.4:c.6141G>T ENSP00000479270.1:p.Arg2047=
ENST00000620040.4:c.6153G>T ENSP00000478150.1:p.Arg2051=
NM_000109.3:c.6129G>T NP_000100.2:p.Arg2043=
NM_004006.2:c.6153G>T , LRG_199t1:c.6153G>T NP_003997.1:p.Arg2051=
NM_004009.3:c.6141G>T NP_004000.1:p.Arg2047=
NM_004010.3:c.5784G>T NP_004001.1:p.Arg1928=
NM_004011.3:c.2130G>T NP_004002.2:p.Arg710=
NM_004012.3:c.2121G>T NP_004003.1:p.Arg707=
XM_006724468.2:c.6153G>T XP_006724531.1:p.Arg2051=
XM_006724469.2:c.6129G>T XP_006724532.1:p.Arg2043=
XM_006724470.2:c.6153G>T XP_006724533.1:p.Arg2051=
XM_006724471.2:c.6153G>T XP_006724534.1:p.Arg2051=
XM_006724472.2:c.6024G>T XP_006724535.1:p.Arg2008=
XM_006724473.2:c.6015G>T XP_006724536.1:p.Arg2005=
XM_006724474.2:c.6153G>T XP_006724537.1:p.Arg2051=
XM_006724475.2:c.6153G>T XP_006724538.1:p.Arg2051=
XM_011545467.1:c.6030G>T XP_011543769.1:p.Arg2010=
XM_011545468.1:c.6153G>T XP_011543770.1:p.Arg2051=
XM_006724469.3:c.6129G>T XP_006724532.1:p.Arg2043=
XM_006724470.3:c.6153G>T XP_006724533.1:p.Arg2051=
XM_006724474.3:c.6153G>T XP_006724537.1:p.Arg2051=
XM_011545468.2:c.6153G>T XP_011543770.1:p.Arg2051=
XM_017029328.1:c.6153G>T XP_016884817.1:p.Arg2051=
XM_017029329.1:c.6153G>T XP_016884818.1:p.Arg2051=
XM_017029330.2:c.6153G>T XP_016884819.1:p.Arg2051=
XM_017029331.1:c.327G>T XP_016884820.1:p.Arg109=
NM_000109.4:c.6129G>T NP_000100.3:p.Arg2043=
NM_004006.3:c.6153G>T MANE Select NP_003997.2:p.Arg2051=
NM_004011.4:c.2130G>T NP_004002.3:p.Arg710=
NM_004012.4:c.2121G>T NP_004003.2:p.Arg707=