Canonical Allele Identifier: CA10378628
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 857583
dbSNP Id: rs769637913
gnomAD v2: X-32361373-G-C
gnomAD v3: X-32343256-G-C
gnomAD v4: X-32343256-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32343256G>C , CM000685.2:g.32343256G>C GRCh38
NC_000023.10:g.32361373G>C , CM000685.1:g.32361373G>C GRCh37
NC_000023.9:g.32271294G>C NCBI36
NG_012232.1:g.1001354C>G , LRG_199:g.1001354C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.463C>G ENSP00000350765.3:p.Leu155Val
ENST00000357033.9:c.5617C>G MANE Select ENSP00000354923.3:p.Leu1873Val
ENST00000619831.5:c.1585C>G ENSP00000479270.2:p.Leu529Val
ENST00000357033.8:c.5617C>G ENSP00000354923.3:p.Leu1873Val
ENST00000378677.6:c.5605C>G ENSP00000367948.2:p.Leu1869Val
ENST00000488902.5:n.336-126193C>G
ENST00000493412.1:c.274C>G ENSP00000417725.1:p.Leu92Val
ENST00000619831.4:c.5605C>G ENSP00000479270.1:p.Leu1869Val
ENST00000620040.4:c.5617C>G ENSP00000478150.1:p.Leu1873Val
NM_000109.3:c.5593C>G NP_000100.2:p.Leu1865Val
NM_004006.2:c.5617C>G , LRG_199t1:c.5617C>G NP_003997.1:p.Leu1873Val
NM_004009.3:c.5605C>G NP_004000.1:p.Leu1869Val
NM_004010.3:c.5248C>G NP_004001.1:p.Leu1750Val
NM_004011.3:c.1594C>G NP_004002.2:p.Leu532Val
NM_004012.3:c.1585C>G NP_004003.1:p.Leu529Val
XM_006724468.2:c.5617C>G XP_006724531.1:p.Leu1873Val
XM_006724469.2:c.5593C>G XP_006724532.1:p.Leu1865Val
XM_006724470.2:c.5617C>G XP_006724533.1:p.Leu1873Val
XM_006724471.2:c.5617C>G XP_006724534.1:p.Leu1873Val
XM_006724472.2:c.5488C>G XP_006724535.1:p.Leu1830Val
XM_006724473.2:c.5479C>G XP_006724536.1:p.Leu1827Val
XM_006724474.2:c.5617C>G XP_006724537.1:p.Leu1873Val
XM_006724475.2:c.5617C>G XP_006724538.1:p.Leu1873Val
XM_011545467.1:c.5494C>G XP_011543769.1:p.Leu1832Val
XM_011545468.1:c.5617C>G XP_011543770.1:p.Leu1873Val
XM_011545469.1:c.5617C>G XP_011543771.1:p.Leu1873Val
XM_006724469.3:c.5593C>G XP_006724532.1:p.Leu1865Val
XM_006724470.3:c.5617C>G XP_006724533.1:p.Leu1873Val
XM_006724474.3:c.5617C>G XP_006724537.1:p.Leu1873Val
XM_011545468.2:c.5617C>G XP_011543770.1:p.Leu1873Val
XM_017029328.1:c.5617C>G XP_016884817.1:p.Leu1873Val
XM_017029329.1:c.5617C>G XP_016884818.1:p.Leu1873Val
XM_017029330.2:c.5617C>G XP_016884819.1:p.Leu1873Val
NM_000109.4:c.5593C>G NP_000100.3:p.Leu1865Val
NM_004006.3:c.5617C>G MANE Select NP_003997.2:p.Leu1873Val
NM_004011.4:c.1594C>G NP_004002.3:p.Leu532Val
NM_004012.4:c.1585C>G NP_004003.2:p.Leu529Val