Canonical Allele Identifier: CA10378386
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 287917
dbSNP Id: rs747055774
gnomAD v2: X-31947729-T-G
gnomAD v3: X-31929612-T-G
gnomAD v4: X-31929612-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31929612T>G , CM000685.2:g.31929612T>G GRCh38
NC_000023.10:g.31947729T>G , CM000685.1:g.31947729T>G GRCh37
NC_000023.9:g.31857650T>G NCBI36
NG_012232.1:g.1414998A>C , LRG_199:g.1414998A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.1742A>C ENSP00000350765.3:p.Asn581Thr
ENST00000682135.1:n.557A>C
ENST00000682238.1:c.-485A>C ENSP00000508124.1:n.-485A>C
ENST00000683117.1:n.557A>C
ENST00000683450.1:n.495+62A>C
ENST00000683851.1:n.557A>C
ENST00000683957.1:n.388A>C
ENST00000684130.1:c.-485A>C ENSP00000508037.1:n.-485A>C
ENST00000357033.9:c.6896A>C MANE Select ENSP00000354923.3:p.Asn2299Thr
ENST00000619831.5:c.2864A>C ENSP00000479270.2:p.Asn955Thr
ENST00000620040.5:c.-485A>C ENSP00000478150.2:n.-485A>C
ENST00000680961.1:c.-485A>C ENSP00000506386.1:n.-485A>C
ENST00000681646.1:n.557A>C
ENST00000357033.8:c.6896A>C ENSP00000354923.3:p.Asn2299Thr
ENST00000359836.5:c.-485A>C ENSP00000352894.1:n.-485A>C
ENST00000378677.6:c.6884A>C ENSP00000367948.2:p.Asn2295Thr
ENST00000378707.7:c.-485A>C ENSP00000367979.3:n.-485A>C
ENST00000474231.5:c.-485A>C ENSP00000417123.1:n.-485A>C
ENST00000541735.5:c.-485A>C ENSP00000444119.1:n.-485A>C
ENST00000619831.4:c.6881A>C ENSP00000479270.1:p.Asn2294Thr
ENST00000620040.4:c.6893A>C ENSP00000478150.1:p.Asn2298Thr
NM_000109.3:c.6872A>C NP_000100.2:p.Asn2291Thr
NM_004006.2:c.6896A>C , LRG_199t1:c.6896A>C NP_003997.1:p.Asn2299Thr
NM_004009.3:c.6884A>C NP_004000.1:p.Asn2295Thr
NM_004010.3:c.6527A>C NP_004001.1:p.Asn2176Thr
NM_004011.3:c.2873A>C NP_004002.2:p.Asn958Thr
NM_004012.3:c.2864A>C NP_004003.1:p.Asn955Thr
NM_004013.2:c.-485A>C NP_004004.1:n.-485A>C
NM_004020.3:c.-485A>C NP_004011.2:n.-485A>C
NM_004021.2:c.-485A>C NP_004012.1:n.-485A>C
NM_004022.2:c.-485A>C NP_004013.1:n.-485A>C
NM_004023.2:c.-485A>C NP_004014.1:n.-485A>C
XM_006724468.2:c.6896A>C XP_006724531.1:p.Asn2299Thr
XM_006724469.2:c.6872A>C XP_006724532.1:p.Asn2291Thr
XM_006724470.2:c.6896A>C XP_006724533.1:p.Asn2299Thr
XM_006724471.2:c.6896A>C XP_006724534.1:p.Asn2299Thr
XM_006724472.2:c.6767A>C XP_006724535.1:p.Asn2256Thr
XM_006724473.2:c.6758A>C XP_006724536.1:p.Asn2253Thr
XM_006724474.2:c.6896A>C XP_006724537.1:p.Asn2299Thr
XM_006724475.2:c.6896A>C XP_006724538.1:p.Asn2299Thr
XM_011545467.1:c.6773A>C XP_011543769.1:p.Asn2258Thr
XM_011545468.1:c.6896A>C XP_011543770.1:p.Asn2299Thr
XM_006724469.3:c.6872A>C XP_006724532.1:p.Asn2291Thr
XM_006724470.3:c.6896A>C XP_006724533.1:p.Asn2299Thr
XM_006724474.3:c.6896A>C XP_006724537.1:p.Asn2299Thr
XM_011545468.2:c.6896A>C XP_011543770.1:p.Asn2299Thr
XM_017029328.1:c.6896A>C XP_016884817.1:p.Asn2299Thr
XM_017029331.1:c.1070A>C XP_016884820.1:p.Asn357Thr
NM_000109.4:c.6872A>C NP_000100.3:p.Asn2291Thr
NM_004006.3:c.6896A>C MANE Select NP_003997.2:p.Asn2299Thr
NM_004011.4:c.2873A>C NP_004002.3:p.Asn958Thr
NM_004012.4:c.2864A>C NP_004003.2:p.Asn955Thr
NM_004021.3:c.-485A>C NP_004012.2:n.-485A>C
NM_004023.3:c.-485A>C NP_004014.2:n.-485A>C
NM_004013.3:c.-485A>C NP_004004.2:n.-485A>C
NM_004020.4:c.-485A>C NP_004011.3:n.-485A>C
NM_004022.3:c.-485A>C NP_004013.2:n.-485A>C