Canonical Allele Identifier: CA10378280
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 288822
dbSNP Id: rs757394130
gnomAD v2: X-31792192-T-C
gnomAD v3: X-31774075-T-C
gnomAD v4: X-31774075-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31774075T>C , CM000685.2:g.31774075T>C GRCh38
NC_000023.10:g.31792192T>C , CM000685.1:g.31792192T>C GRCh37
NC_000023.9:g.31702113T>C NCBI36
NG_012232.1:g.1570535A>G , LRG_199:g.1570535A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.2273A>G ENSP00000350765.3:p.Asn758Ser
ENST00000682238.1:c.47A>G ENSP00000508124.1:p.Asn16Ser
ENST00000683117.1:n.1088A>G
ENST00000683450.1:n.1010A>G
ENST00000683851.1:n.1088A>G
ENST00000683957.1:n.919A>G
ENST00000684130.1:c.47A>G ENSP00000508037.1:p.Asn16Ser
ENST00000357033.9:c.7427A>G MANE Select ENSP00000354923.3:p.Asn2476Ser
ENST00000619831.5:c.3395A>G ENSP00000479270.2:p.Asn1132Ser
ENST00000620040.5:c.47A>G ENSP00000478150.2:p.Asn16Ser
ENST00000680961.1:c.47A>G ENSP00000506386.1:p.Asn16Ser
ENST00000681646.1:n.1088A>G
ENST00000681839.1:c.416A>G ENSP00000505228.1:p.Asn139Ser
ENST00000357033.8:c.7427A>G ENSP00000354923.3:p.Asn2476Ser
ENST00000358062.6:c.515A>G ENSP00000350765.2:p.Asn172Ser
ENST00000359836.5:c.47A>G ENSP00000352894.1:p.Asn16Ser
ENST00000378677.6:c.7415A>G ENSP00000367948.2:p.Asn2472Ser
ENST00000378707.7:c.47A>G ENSP00000367979.3:p.Asn16Ser
ENST00000471779.1:c.184A>G ENSP00000417075.1:n.184A>G
ENST00000474231.5:c.47A>G ENSP00000417123.1:p.Asn16Ser
ENST00000541735.5:c.47A>G ENSP00000444119.1:p.Asn16Ser
ENST00000619831.4:c.7412A>G ENSP00000479270.1:p.Asn2471Ser
ENST00000620040.4:c.7424A>G ENSP00000478150.1:p.Asn2475Ser
NM_000109.3:c.7403A>G NP_000100.2:p.Asn2468Ser
NM_004006.2:c.7427A>G , LRG_199t1:c.7427A>G NP_003997.1:p.Asn2476Ser
NM_004009.3:c.7415A>G NP_004000.1:p.Asn2472Ser
NM_004010.3:c.7058A>G NP_004001.1:p.Asn2353Ser
NM_004011.3:c.3404A>G NP_004002.2:p.Asn1135Ser
NM_004012.3:c.3395A>G NP_004003.1:p.Asn1132Ser
NM_004013.2:c.47A>G NP_004004.1:p.Asn16Ser
NM_004020.3:c.47A>G NP_004011.2:p.Asn16Ser
NM_004021.2:c.47A>G NP_004012.1:p.Asn16Ser
NM_004022.2:c.47A>G NP_004013.1:p.Asn16Ser
NM_004023.2:c.47A>G NP_004014.1:p.Asn16Ser
XM_006724468.2:c.7427A>G XP_006724531.1:p.Asn2476Ser
XM_006724469.2:c.7403A>G XP_006724532.1:p.Asn2468Ser
XM_006724470.2:c.7427A>G XP_006724533.1:p.Asn2476Ser
XM_006724471.2:c.7427A>G XP_006724534.1:p.Asn2476Ser
XM_006724472.2:c.7298A>G XP_006724535.1:p.Asn2433Ser
XM_006724473.2:c.7289A>G XP_006724536.1:p.Asn2430Ser
XM_006724474.2:c.7427A>G XP_006724537.1:p.Asn2476Ser
XM_006724475.2:c.7427A>G XP_006724538.1:p.Asn2476Ser
XM_011545467.1:c.7304A>G XP_011543769.1:p.Asn2435Ser
XM_011545468.1:c.7427A>G XP_011543770.1:p.Asn2476Ser
XM_006724469.3:c.7403A>G XP_006724532.1:p.Asn2468Ser
XM_006724470.3:c.7427A>G XP_006724533.1:p.Asn2476Ser
XM_006724474.3:c.7427A>G XP_006724537.1:p.Asn2476Ser
XM_011545468.2:c.7427A>G XP_011543770.1:p.Asn2476Ser
XM_017029328.1:c.7427A>G XP_016884817.1:p.Asn2476Ser
XM_017029331.1:c.1601A>G XP_016884820.1:p.Asn534Ser
NM_000109.4:c.7403A>G NP_000100.3:p.Asn2468Ser
NM_004006.3:c.7427A>G MANE Select NP_003997.2:p.Asn2476Ser
NM_004011.4:c.3404A>G NP_004002.3:p.Asn1135Ser
NM_004012.4:c.3395A>G NP_004003.2:p.Asn1132Ser
NM_004021.3:c.47A>G NP_004012.2:p.Asn16Ser
NM_004023.3:c.47A>G NP_004014.2:p.Asn16Ser
NM_004013.3:c.47A>G NP_004004.2:p.Asn16Ser
NM_004020.4:c.47A>G NP_004011.3:p.Asn16Ser
NM_004022.3:c.47A>G NP_004013.2:p.Asn16Ser