Canonical Allele Identifier: CA10379335
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 1515499
ClinVar RCV Id: RCV002021141
dbSNP Id: rs757192472
gnomAD v2: X-32482812-T-C
gnomAD v4: X-32464695-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32464695T>C , CM000685.2:g.32464695T>C GRCh38
NC_000023.10:g.32482812T>C , CM000685.1:g.32482812T>C GRCh37
NC_000023.9:g.32392733T>C NCBI36
NG_012232.1:g.879915A>G , LRG_199:g.879915A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682899.1:n.3374A>G
ENST00000357033.9:c.3167A>G MANE Select ENSP00000354923.3:p.His1056Arg
ENST00000357033.8:c.3167A>G ENSP00000354923.3:p.His1056Arg
ENST00000378677.6:c.3155A>G ENSP00000367948.2:p.His1052Arg
ENST00000420596.5:c.94-99496A>G ENSP00000399897.1:n.94-99496A>G
ENST00000448370.5:c.94-99985A>G ENSP00000388559.1:n.94-99985A>G
ENST00000488902.5:n.336-247632A>G
ENST00000619831.4:c.3155A>G ENSP00000479270.1:p.His1052Arg
ENST00000620040.4:c.3167A>G ENSP00000478150.1:p.His1056Arg
NM_000109.3:c.3143A>G NP_000100.2:p.His1048Arg
NM_004006.2:c.3167A>G , LRG_199t1:c.3167A>G NP_003997.1:p.His1056Arg
NM_004009.3:c.3155A>G NP_004000.1:p.His1052Arg
NM_004010.3:c.2798A>G NP_004001.1:p.His933Arg
XM_006724468.2:c.3167A>G XP_006724531.1:p.His1056Arg
XM_006724469.2:c.3143A>G XP_006724532.1:p.His1048Arg
XM_006724470.2:c.3167A>G XP_006724533.1:p.His1056Arg
XM_006724471.2:c.3167A>G XP_006724534.1:p.His1056Arg
XM_006724472.2:c.3038A>G XP_006724535.1:p.His1013Arg
XM_006724473.2:c.3167A>G XP_006724536.1:p.His1056Arg
XM_006724474.2:c.3167A>G XP_006724537.1:p.His1056Arg
XM_006724475.2:c.3167A>G XP_006724538.1:p.His1056Arg
XM_011545467.1:c.3167A>G XP_011543769.1:p.His1056Arg
XM_011545468.1:c.3167A>G XP_011543770.1:p.His1056Arg
XM_011545469.1:c.3167A>G XP_011543771.1:p.His1056Arg
XM_006724469.3:c.3143A>G XP_006724532.1:p.His1048Arg
XM_006724470.3:c.3167A>G XP_006724533.1:p.His1056Arg
XM_006724474.3:c.3167A>G XP_006724537.1:p.His1056Arg
XM_011545468.2:c.3167A>G XP_011543770.1:p.His1056Arg
XM_017029328.1:c.3167A>G XP_016884817.1:p.His1056Arg
XM_017029329.1:c.3167A>G XP_016884818.1:p.His1056Arg
XM_017029330.2:c.3167A>G XP_016884819.1:p.His1056Arg
NM_000109.4:c.3143A>G NP_000100.3:p.His1048Arg
NM_004006.3:c.3167A>G MANE Select NP_003997.2:p.His1056Arg