Canonical Allele Identifier: CA874698606
Gene: DMD HGNC NCBI

Linked Data

dbSNP Id: rs1302405925
gnomAD v3: X-32343291-T-A
gnomAD v4: X-32343291-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32343291T>A , CM000685.2:g.32343291T>A GRCh38
NC_000023.10:g.32361408T>A , CM000685.1:g.32361408T>A GRCh37
NC_000023.9:g.32271329T>A NCBI36
NG_012232.1:g.1001319A>T , LRG_199:g.1001319A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.433-5A>T ENSP00000350765.3:n.433-5A>T
ENST00000357033.9:c.5587-5A>T MANE Select ENSP00000354923.3:n.5587-5A>T
ENST00000619831.5:c.1555-5A>T ENSP00000479270.2:n.1555-5A>T
ENST00000357033.8:c.5587-5A>T ENSP00000354923.3:n.5587-5A>T
ENST00000378677.6:c.5575-5A>T ENSP00000367948.2:n.5575-5A>T
ENST00000488902.5:n.336-126228A>T
ENST00000493412.1:c.244-5A>T ENSP00000417725.1:n.244-5A>T
ENST00000619831.4:c.5575-5A>T ENSP00000479270.1:n.5575-5A>T
ENST00000620040.4:c.5587-5A>T ENSP00000478150.1:n.5587-5A>T
NM_000109.3:c.5563-5A>T NP_000100.2:n.5563-5A>T
NM_004006.2:c.5587-5A>T , LRG_199t1:c.5587-5A>T NP_003997.1:n.5587-5A>T
NM_004009.3:c.5575-5A>T NP_004000.1:n.5575-5A>T
NM_004010.3:c.5218-5A>T NP_004001.1:n.5218-5A>T
NM_004011.3:c.1564-5A>T NP_004002.2:n.1564-5A>T
NM_004012.3:c.1555-5A>T NP_004003.1:n.1555-5A>T
XM_006724468.2:c.5587-5A>T XP_006724531.1:n.5587-5A>T
XM_006724469.2:c.5563-5A>T XP_006724532.1:n.5563-5A>T
XM_006724470.2:c.5587-5A>T XP_006724533.1:n.5587-5A>T
XM_006724471.2:c.5587-5A>T XP_006724534.1:n.5587-5A>T
XM_006724472.2:c.5458-5A>T XP_006724535.1:n.5458-5A>T
XM_006724473.2:c.5449-5A>T XP_006724536.1:n.5449-5A>T
XM_006724474.2:c.5587-5A>T XP_006724537.1:n.5587-5A>T
XM_006724475.2:c.5587-5A>T XP_006724538.1:n.5587-5A>T
XM_011545467.1:c.5464-5A>T XP_011543769.1:n.5464-5A>T
XM_011545468.1:c.5587-5A>T XP_011543770.1:n.5587-5A>T
XM_011545469.1:c.5587-5A>T XP_011543771.1:n.5587-5A>T
XM_006724469.3:c.5563-5A>T XP_006724532.1:n.5563-5A>T
XM_006724470.3:c.5587-5A>T XP_006724533.1:n.5587-5A>T
XM_006724474.3:c.5587-5A>T XP_006724537.1:n.5587-5A>T
XM_011545468.2:c.5587-5A>T XP_011543770.1:n.5587-5A>T
XM_017029328.1:c.5587-5A>T XP_016884817.1:n.5587-5A>T
XM_017029329.1:c.5587-5A>T XP_016884818.1:n.5587-5A>T
XM_017029330.2:c.5587-5A>T XP_016884819.1:n.5587-5A>T
NM_000109.4:c.5563-5A>T NP_000100.3:n.5563-5A>T
NM_004006.3:c.5587-5A>T MANE Select NP_003997.2:n.5587-5A>T
NM_004011.4:c.1564-5A>T NP_004002.3:n.1564-5A>T
NM_004012.4:c.1555-5A>T NP_004003.2:n.1555-5A>T