Canonical Allele Identifier: CA10654749
Gene: DMD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369655
ClinVar RCV Id: RCV000408629
dbSNP Id: rs1057516028

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32287680G>A , CM000685.2:g.32287680G>A GRCh38
NC_000023.10:g.32305797G>A , CM000685.1:g.32305797G>A GRCh37
NC_000023.9:g.32215718G>A NCBI36
NG_012232.1:g.1056930C>T , LRG_199:g.1056930C>T

Transcript Alleles

HGVS Amino-acid change
NM_000109.3:c.6115C>T VV NP_000100.2:p.Gln2039Ter
NM_004006.2:c.6139C>T , LRG_199t1:c.6139C>T NP_003997.1:p.Gln2047Ter
NM_004009.3:c.6127C>T VV NP_004000.1:p.Gln2043Ter
NM_004010.3:c.5770C>T VV NP_004001.1:p.Gln1924Ter
NM_004011.3:c.2116C>T VV NP_004002.2:p.Gln706Ter
NM_004012.3:c.2107C>T VV NP_004003.1:p.Gln703Ter
XM_006724468.2:c.6139C>T XP_006724531.1:p.Gln2047Ter
XM_006724469.2:c.6115C>T XP_006724532.1:p.Gln2039Ter
XM_006724470.2:c.6139C>T XP_006724533.1:p.Gln2047Ter
XM_006724471.2:c.6139C>T XP_006724534.1:p.Gln2047Ter
XM_006724472.2:c.6010C>T XP_006724535.1:p.Gln2004Ter
XM_006724473.2:c.6001C>T XP_006724536.1:p.Gln2001Ter
XM_006724474.2:c.6139C>T XP_006724537.1:p.Gln2047Ter
XM_006724475.2:c.6139C>T XP_006724538.1:p.Gln2047Ter
XM_011545467.1:c.6016C>T XP_011543769.1:p.Gln2006Ter
XM_011545468.1:c.6139C>T XP_011543770.1:p.Gln2047Ter
XM_006724469.3:c.6115C>T XP_006724532.1:p.Gln2039Ter
XM_006724470.3:c.6139C>T XP_006724533.1:p.Gln2047Ter
XM_006724474.3:c.6139C>T XP_006724537.1:p.Gln2047Ter
XM_011545468.2:c.6139C>T XP_011543770.1:p.Gln2047Ter
XM_017029328.1:c.6139C>T XP_016884817.1:p.Gln2047Ter
XM_017029329.1:c.6139C>T XP_016884818.1:p.Gln2047Ter
XM_017029330.2:c.6139C>T XP_016884819.1:p.Gln2047Ter
XM_017029331.1:c.313C>T XP_016884820.1:p.Gln105Ter
ENST00000357033.8:c.6139C>T ENSP00000354923.3:p.Gln2047Ter
ENST00000378677.6:c.6127C>T ENSP00000367948.2:p.Gln2043Ter
ENST00000488902.5:n.336-70617C>T
ENST00000619831.4:n.6127C>T ENSP00000479270.1:p.Gln2043Ter
ENST00000620040.4:n.6139C>T ENSP00000478150.1:p.Gln2047Ter