Canonical Allele Identifier: CA10378818
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 282823
dbSNP Id: rs750090479
gnomAD v2: X-32383221-C-T
gnomAD v3: X-32365104-C-T
gnomAD v4: X-32365104-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32365104C>T , CM000685.2:g.32365104C>T GRCh38
NC_000023.10:g.32383221C>T , CM000685.1:g.32383221C>T GRCh37
NC_000023.9:g.32293142C>T NCBI36
NG_012232.1:g.979506G>A , LRG_199:g.979506G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357033.9:c.4941G>A MANE Select ENSP00000354923.3:p.Thr1647=
ENST00000619831.5:c.909G>A ENSP00000479270.2:p.Thr303=
ENST00000357033.8:c.4941G>A ENSP00000354923.3:p.Thr1647=
ENST00000378677.6:c.4929G>A ENSP00000367948.2:p.Thr1643=
ENST00000420596.5:c.189G>A ENSP00000399897.1:p.Thr63=
ENST00000448370.5:c.94-394G>A ENSP00000388559.1:n.94-394G>A
ENST00000488902.5:n.336-148041G>A
ENST00000619831.4:c.4929G>A ENSP00000479270.1:p.Thr1643=
ENST00000620040.4:c.4941G>A ENSP00000478150.1:p.Thr1647=
NM_000109.3:c.4917G>A NP_000100.2:p.Thr1639=
NM_004006.2:c.4941G>A , LRG_199t1:c.4941G>A NP_003997.1:p.Thr1647=
NM_004009.3:c.4929G>A NP_004000.1:p.Thr1643=
NM_004010.3:c.4572G>A NP_004001.1:p.Thr1524=
NM_004011.3:c.918G>A NP_004002.2:p.Thr306=
NM_004012.3:c.909G>A NP_004003.1:p.Thr303=
XM_006724468.2:c.4941G>A XP_006724531.1:p.Thr1647=
XM_006724469.2:c.4917G>A XP_006724532.1:p.Thr1639=
XM_006724470.2:c.4941G>A XP_006724533.1:p.Thr1647=
XM_006724471.2:c.4941G>A XP_006724534.1:p.Thr1647=
XM_006724472.2:c.4812G>A XP_006724535.1:p.Thr1604=
XM_006724473.2:c.4941G>A XP_006724536.1:p.Thr1647=
XM_006724474.2:c.4941G>A XP_006724537.1:p.Thr1647=
XM_006724475.2:c.4941G>A XP_006724538.1:p.Thr1647=
XM_011545467.1:c.4941G>A XP_011543769.1:p.Thr1647=
XM_011545468.1:c.4941G>A XP_011543770.1:p.Thr1647=
XM_011545469.1:c.4941G>A XP_011543771.1:p.Thr1647=
XM_006724469.3:c.4917G>A XP_006724532.1:p.Thr1639=
XM_006724470.3:c.4941G>A XP_006724533.1:p.Thr1647=
XM_006724474.3:c.4941G>A XP_006724537.1:p.Thr1647=
XM_011545468.2:c.4941G>A XP_011543770.1:p.Thr1647=
XM_017029328.1:c.4941G>A XP_016884817.1:p.Thr1647=
XM_017029329.1:c.4941G>A XP_016884818.1:p.Thr1647=
XM_017029330.2:c.4941G>A XP_016884819.1:p.Thr1647=
NM_000109.4:c.4917G>A NP_000100.3:p.Thr1639=
NM_004006.3:c.4941G>A MANE Select NP_003997.2:p.Thr1647=
NM_004011.4:c.918G>A NP_004002.3:p.Thr306=
NM_004012.4:c.909G>A NP_004003.2:p.Thr303=