Canonical Allele Identifier: CA16608442
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 379872
ClinVar RCV Id: RCV000424485 RCV000620663 RCV002524857
dbSNP Id: rs1057520764
MyVariant Identifiers: chrX:g.32360381G>A (hg19) chrX:g.32342264G>A (hg38)
PubMed: PMID:19937601 PMID:25525159
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32342264G>A , CM000685.2:g.32342264G>A GRCh38
NC_000023.10:g.32360381G>A , CM000685.1:g.32360381G>A GRCh37
NC_000023.9:g.32270302G>A NCBI36
NG_012232.1:g.1002346C>T , LRG_199:g.1002346C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.604C>T ENSP00000350765.3:p.Gln202Ter
ENST00000357033.9:c.5758C>T MANE Select ENSP00000354923.3:p.Gln1920Ter
ENST00000619831.5:c.1726C>T ENSP00000479270.2:p.Gln576Ter
ENST00000357033.8:c.5758C>T ENSP00000354923.3:p.Gln1920Ter
ENST00000378677.6:c.5746C>T ENSP00000367948.2:p.Gln1916Ter
ENST00000488902.5:n.336-125201C>T
ENST00000619831.4:c.5746C>T ENSP00000479270.1:p.Gln1916Ter
ENST00000620040.4:c.5758C>T ENSP00000478150.1:p.Gln1920Ter
NM_000109.3:c.5734C>T NP_000100.2:p.Gln1912Ter
NM_004006.2:c.5758C>T , LRG_199t1:c.5758C>T NP_003997.1:p.Gln1920Ter
NM_004009.3:c.5746C>T NP_004000.1:p.Gln1916Ter
NM_004010.3:c.5389C>T NP_004001.1:p.Gln1797Ter
NM_004011.3:c.1735C>T NP_004002.2:p.Gln579Ter
NM_004012.3:c.1726C>T NP_004003.1:p.Gln576Ter
XM_006724468.2:c.5758C>T XP_006724531.1:p.Gln1920Ter
XM_006724469.2:c.5734C>T XP_006724532.1:p.Gln1912Ter
XM_006724470.2:c.5758C>T XP_006724533.1:p.Gln1920Ter
XM_006724471.2:c.5758C>T XP_006724534.1:p.Gln1920Ter
XM_006724472.2:c.5629C>T XP_006724535.1:p.Gln1877Ter
XM_006724473.2:c.5620C>T XP_006724536.1:p.Gln1874Ter
XM_006724474.2:c.5758C>T XP_006724537.1:p.Gln1920Ter
XM_006724475.2:c.5758C>T XP_006724538.1:p.Gln1920Ter
XM_011545467.1:c.5635C>T XP_011543769.1:p.Gln1879Ter
XM_011545468.1:c.5758C>T XP_011543770.1:p.Gln1920Ter
XM_006724469.3:c.5734C>T XP_006724532.1:p.Gln1912Ter
XM_006724470.3:c.5758C>T XP_006724533.1:p.Gln1920Ter
XM_006724474.3:c.5758C>T XP_006724537.1:p.Gln1920Ter
XM_011545468.2:c.5758C>T XP_011543770.1:p.Gln1920Ter
XM_017029328.1:c.5758C>T XP_016884817.1:p.Gln1920Ter
XM_017029329.1:c.5758C>T XP_016884818.1:p.Gln1920Ter
XM_017029330.2:c.5758C>T XP_016884819.1:p.Gln1920Ter
XM_017029331.1:c.-69C>T XP_016884820.1:n.-69C>T
NM_000109.4:c.5734C>T NP_000100.3:p.Gln1912Ter
NM_004006.3:c.5758C>T MANE Select NP_003997.2:p.Gln1920Ter
NM_004011.4:c.1735C>T NP_004002.3:p.Gln579Ter
NM_004012.4:c.1726C>T NP_004003.2:p.Gln576Ter
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