Canonical Allele Identifier: CA16616683
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 409904
ClinVar RCV Id: RCV000458031
dbSNP Id: rs1060502634
COSMIC: COSM6284208 COSM6284209 COSM6284210
MyVariant Identifiers: chrX:g.32663080C>T (hg19) chrX:g.32644963C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32644963C>T , CM000685.2:g.32644963C>T GRCh38
NC_000023.10:g.32663080C>T , CM000685.1:g.32663080C>T GRCh37
NC_000023.9:g.32573001C>T NCBI36
NG_012232.1:g.699647G>A , LRG_199:g.699647G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682071.1:c.780+1G>A ENSP00000508133.1:n.780+1G>A
ENST00000682899.1:n.1356+1G>A
ENST00000682924.1:c.1149+1G>A ENSP00000508187.1:n.1149+1G>A
ENST00000683985.1:n.1356+1G>A
ENST00000684165.1:n.1356+1G>A
ENST00000684237.1:c.1020+1G>A ENSP00000507277.1:n.1020+1G>A
ENST00000684292.1:n.1356+1G>A
ENST00000288447.9:c.1125+1G>A ENSP00000288447.4:n.1125+1G>A
ENST00000357033.9:c.1149+1G>A MANE Select ENSP00000354923.3:n.1149+1G>A
ENST00000288447.8:c.1125+1G>A ENSP00000288447.4:n.1125+1G>A
ENST00000357033.8:c.1149+1G>A ENSP00000354923.3:n.1149+1G>A
ENST00000378677.6:c.1137+1G>A ENSP00000367948.2:n.1137+1G>A
ENST00000420596.5:c.94-279764G>A ENSP00000399897.1:n.94-279764G>A
ENST00000447523.1:c.247-71117G>A ENSP00000395904.1:n.247-71117G>A
ENST00000448370.5:c.94-280253G>A ENSP00000388559.1:n.94-280253G>A
ENST00000480751.1:n.87-71117G>A
ENST00000488902.5:n.335+375176G>A
ENST00000619831.4:c.1137+1G>A ENSP00000479270.1:n.1137+1G>A
ENST00000620040.4:c.1149+1G>A ENSP00000478150.1:n.1149+1G>A
NM_000109.3:c.1125+1G>A NP_000100.2:n.1125+1G>A
NM_004006.2:c.1149+1G>A , LRG_199t1:c.1149+1G>A NP_003997.1:n.1149+1G>A
NM_004009.3:c.1137+1G>A NP_004000.1:n.1137+1G>A
NM_004010.3:c.780+1G>A NP_004001.1:n.780+1G>A
XM_006724468.2:c.1149+1G>A XP_006724531.1:n.1149+1G>A
XM_006724469.2:c.1125+1G>A XP_006724532.1:n.1125+1G>A
XM_006724470.2:c.1149+1G>A XP_006724533.1:n.1149+1G>A
XM_006724471.2:c.1149+1G>A XP_006724534.1:n.1149+1G>A
XM_006724472.2:c.1020+1G>A XP_006724535.1:n.1020+1G>A
XM_006724473.2:c.1149+1G>A XP_006724536.1:n.1149+1G>A
XM_006724474.2:c.1149+1G>A XP_006724537.1:n.1149+1G>A
XM_006724475.2:c.1149+1G>A XP_006724538.1:n.1149+1G>A
XM_011545467.1:c.1149+1G>A XP_011543769.1:n.1149+1G>A
XM_011545468.1:c.1149+1G>A XP_011543770.1:n.1149+1G>A
XM_011545469.1:c.1149+1G>A XP_011543771.1:n.1149+1G>A
XM_006724469.3:c.1125+1G>A XP_006724532.1:n.1125+1G>A
XM_006724470.3:c.1149+1G>A XP_006724533.1:n.1149+1G>A
XM_006724474.3:c.1149+1G>A XP_006724537.1:n.1149+1G>A
XM_011545468.2:c.1149+1G>A XP_011543770.1:n.1149+1G>A
XM_017029328.1:c.1149+1G>A XP_016884817.1:n.1149+1G>A
XM_017029329.1:c.1149+1G>A XP_016884818.1:n.1149+1G>A
XM_017029330.2:c.1149+1G>A XP_016884819.1:n.1149+1G>A
NM_000109.4:c.1125+1G>A NP_000100.3:n.1125+1G>A
NM_004006.3:c.1149+1G>A MANE Select NP_003997.2:n.1149+1G>A
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