Canonical Allele Identifier: CA16616517
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 409942
ClinVar RCV Id: RCV000466434
dbSNP Id: rs1060502661
MyVariant Identifiers: chrX:g.32563367G>A (hg19) chrX:g.32545250G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32545250G>A , CM000685.2:g.32545250G>A GRCh38
NC_000023.10:g.32563367G>A , CM000685.1:g.32563367G>A GRCh37
NC_000023.9:g.32473288G>A NCBI36
NG_012232.1:g.799360C>T , LRG_199:g.799360C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682899.1:n.2284C>T
ENST00000683985.1:n.2284C>T
ENST00000288447.9:c.2053C>T ENSP00000288447.4:p.Gln685Ter
ENST00000357033.9:c.2077C>T MANE Select ENSP00000354923.3:p.Gln693Ter
ENST00000288447.8:c.2053C>T ENSP00000288447.4:p.Gln685Ter
ENST00000357033.8:c.2077C>T ENSP00000354923.3:p.Gln693Ter
ENST00000378677.6:c.2065C>T ENSP00000367948.2:p.Gln689Ter
ENST00000420596.5:c.94-180051C>T ENSP00000399897.1:n.94-180051C>T
ENST00000448370.5:c.94-180540C>T ENSP00000388559.1:n.94-180540C>T
ENST00000488902.5:n.336-328187C>T
ENST00000619831.4:c.2065C>T ENSP00000479270.1:p.Gln689Ter
ENST00000620040.4:c.2077C>T ENSP00000478150.1:p.Gln693Ter
NM_000109.3:c.2053C>T NP_000100.2:p.Gln685Ter
NM_004006.2:c.2077C>T , LRG_199t1:c.2077C>T NP_003997.1:p.Gln693Ter
NM_004009.3:c.2065C>T NP_004000.1:p.Gln689Ter
NM_004010.3:c.1708C>T NP_004001.1:p.Gln570Ter
XM_006724468.2:c.2077C>T XP_006724531.1:p.Gln693Ter
XM_006724469.2:c.2053C>T XP_006724532.1:p.Gln685Ter
XM_006724470.2:c.2077C>T XP_006724533.1:p.Gln693Ter
XM_006724471.2:c.2077C>T XP_006724534.1:p.Gln693Ter
XM_006724472.2:c.1948C>T XP_006724535.1:p.Gln650Ter
XM_006724473.2:c.2077C>T XP_006724536.1:p.Gln693Ter
XM_006724474.2:c.2077C>T XP_006724537.1:p.Gln693Ter
XM_006724475.2:c.2077C>T XP_006724538.1:p.Gln693Ter
XM_011545467.1:c.2077C>T XP_011543769.1:p.Gln693Ter
XM_011545468.1:c.2077C>T XP_011543770.1:p.Gln693Ter
XM_011545469.1:c.2077C>T XP_011543771.1:p.Gln693Ter
XM_006724469.3:c.2053C>T XP_006724532.1:p.Gln685Ter
XM_006724470.3:c.2077C>T XP_006724533.1:p.Gln693Ter
XM_006724474.3:c.2077C>T XP_006724537.1:p.Gln693Ter
XM_011545468.2:c.2077C>T XP_011543770.1:p.Gln693Ter
XM_017029328.1:c.2077C>T XP_016884817.1:p.Gln693Ter
XM_017029329.1:c.2077C>T XP_016884818.1:p.Gln693Ter
XM_017029330.2:c.2077C>T XP_016884819.1:p.Gln693Ter
NM_000109.4:c.2053C>T NP_000100.3:p.Gln685Ter
NM_004006.3:c.2077C>T MANE Select NP_003997.2:p.Gln693Ter
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