Canonical Allele Identifier: CA16609178
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 391925
ClinVar RCV Id: RCV000430460
dbSNP Id: rs1057524291
COSMIC: COSM422578 COSM422579 COSM422580 COSM1133864
MyVariant Identifiers: chrX:g.32429880G>A (hg19) chrX:g.32411763G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32411763G>A , CM000685.2:g.32411763G>A GRCh38
NC_000023.10:g.32429880G>A , CM000685.1:g.32429880G>A GRCh37
NC_000023.9:g.32339801G>A NCBI36
NG_012232.1:g.932847C>T , LRG_199:g.932847C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357033.9:c.4222C>T MANE Select ENSP00000354923.3:p.Gln1408Ter
ENST00000619831.5:c.190C>T ENSP00000479270.2:p.Gln64Ter
ENST00000357033.8:c.4222C>T ENSP00000354923.3:p.Gln1408Ter
ENST00000378677.6:c.4210C>T ENSP00000367948.2:p.Gln1404Ter
ENST00000420596.5:c.94-46564C>T ENSP00000399897.1:n.94-46564C>T
ENST00000448370.5:c.94-47053C>T ENSP00000388559.1:n.94-47053C>T
ENST00000488902.5:n.336-194700C>T
ENST00000619831.4:c.4210C>T ENSP00000479270.1:p.Gln1404Ter
ENST00000620040.4:c.4222C>T ENSP00000478150.1:p.Gln1408Ter
NM_000109.3:c.4198C>T NP_000100.2:p.Gln1400Ter
NM_004006.2:c.4222C>T , LRG_199t1:c.4222C>T NP_003997.1:p.Gln1408Ter
NM_004009.3:c.4210C>T NP_004000.1:p.Gln1404Ter
NM_004010.3:c.3853C>T NP_004001.1:p.Gln1285Ter
NM_004011.3:c.199C>T NP_004002.2:p.Gln67Ter
NM_004012.3:c.190C>T NP_004003.1:p.Gln64Ter
XM_006724468.2:c.4222C>T XP_006724531.1:p.Gln1408Ter
XM_006724469.2:c.4198C>T XP_006724532.1:p.Gln1400Ter
XM_006724470.2:c.4222C>T XP_006724533.1:p.Gln1408Ter
XM_006724471.2:c.4222C>T XP_006724534.1:p.Gln1408Ter
XM_006724472.2:c.4093C>T XP_006724535.1:p.Gln1365Ter
XM_006724473.2:c.4222C>T XP_006724536.1:p.Gln1408Ter
XM_006724474.2:c.4222C>T XP_006724537.1:p.Gln1408Ter
XM_006724475.2:c.4222C>T XP_006724538.1:p.Gln1408Ter
XM_011545467.1:c.4222C>T XP_011543769.1:p.Gln1408Ter
XM_011545468.1:c.4222C>T XP_011543770.1:p.Gln1408Ter
XM_011545469.1:c.4222C>T XP_011543771.1:p.Gln1408Ter
XM_006724469.3:c.4198C>T XP_006724532.1:p.Gln1400Ter
XM_006724470.3:c.4222C>T XP_006724533.1:p.Gln1408Ter
XM_006724474.3:c.4222C>T XP_006724537.1:p.Gln1408Ter
XM_011545468.2:c.4222C>T XP_011543770.1:p.Gln1408Ter
XM_017029328.1:c.4222C>T XP_016884817.1:p.Gln1408Ter
XM_017029329.1:c.4222C>T XP_016884818.1:p.Gln1408Ter
XM_017029330.2:c.4222C>T XP_016884819.1:p.Gln1408Ter
NM_000109.4:c.4198C>T NP_000100.3:p.Gln1400Ter
NM_004006.3:c.4222C>T MANE Select NP_003997.2:p.Gln1408Ter
NM_004011.4:c.199C>T NP_004002.3:p.Gln67Ter
NM_004012.4:c.190C>T NP_004003.2:p.Gln64Ter
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