Canonical Allele Identifier: CA285580
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 94657
dbSNP Id: rs1801187
gnomAD v2: X-32380996-C-T
gnomAD v3: X-32362879-C-T
gnomAD v4: X-32362879-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32362879C>T , CM000685.2:g.32362879C>T GRCh38
NC_000023.10:g.32380996C>T , CM000685.1:g.32380996C>T GRCh37
NC_000023.9:g.32290917C>T NCBI36
NG_012232.1:g.981731G>A , LRG_199:g.981731G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.80G>A ENSP00000350765.3:p.Arg27His
ENST00000357033.9:c.5234G>A MANE Select ENSP00000354923.3:p.Arg1745His
ENST00000619831.5:c.1202G>A ENSP00000479270.2:p.Arg401His
ENST00000357033.8:c.5234G>A ENSP00000354923.3:p.Arg1745His
ENST00000378677.6:c.5222G>A ENSP00000367948.2:p.Arg1741His
ENST00000488902.5:n.336-145816G>A
ENST00000619831.4:c.5222G>A ENSP00000479270.1:p.Arg1741His
ENST00000620040.4:c.5234G>A ENSP00000478150.1:p.Arg1745His
NM_000109.3:c.5210G>A NP_000100.2:p.Arg1737His
NM_004006.2:c.5234G>A , LRG_199t1:c.5234G>A NP_003997.1:p.Arg1745His
NM_004009.3:c.5222G>A NP_004000.1:p.Arg1741His
NM_004010.3:c.4865G>A NP_004001.1:p.Arg1622His
NM_004011.3:c.1211G>A NP_004002.2:p.Arg404His
NM_004012.3:c.1202G>A NP_004003.1:p.Arg401His
XM_006724468.2:c.5234G>A XP_006724531.1:p.Arg1745His
XM_006724469.2:c.5210G>A XP_006724532.1:p.Arg1737His
XM_006724470.2:c.5234G>A XP_006724533.1:p.Arg1745His
XM_006724471.2:c.5234G>A XP_006724534.1:p.Arg1745His
XM_006724472.2:c.5105G>A XP_006724535.1:p.Arg1702His
XM_006724473.2:c.5234G>A XP_006724536.1:p.Arg1745His
XM_006724474.2:c.5234G>A XP_006724537.1:p.Arg1745His
XM_006724475.2:c.5234G>A XP_006724538.1:p.Arg1745His
XM_011545467.1:c.5234G>A XP_011543769.1:p.Arg1745His
XM_011545468.1:c.5234G>A XP_011543770.1:p.Arg1745His
XM_011545469.1:c.5234G>A XP_011543771.1:p.Arg1745His
XM_006724469.3:c.5210G>A XP_006724532.1:p.Arg1737His
XM_006724470.3:c.5234G>A XP_006724533.1:p.Arg1745His
XM_006724474.3:c.5234G>A XP_006724537.1:p.Arg1745His
XM_011545468.2:c.5234G>A XP_011543770.1:p.Arg1745His
XM_017029328.1:c.5234G>A XP_016884817.1:p.Arg1745His
XM_017029329.1:c.5234G>A XP_016884818.1:p.Arg1745His
XM_017029330.2:c.5234G>A XP_016884819.1:p.Arg1745His
NM_000109.4:c.5210G>A NP_000100.3:p.Arg1737His
NM_004006.3:c.5234G>A MANE Select NP_003997.2:p.Arg1745His
NM_004011.4:c.1211G>A NP_004002.3:p.Arg404His
NM_004012.4:c.1202G>A NP_004003.2:p.Arg401His