Canonical Allele Identifier: CA2693396008
Gene: DMD HGNC NCBI

Linked Data

gnomAD v4: X-32454588-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32454588C>A , CM000685.2:g.32454588C>A GRCh38
NC_000023.10:g.32472705C>A , CM000685.1:g.32472705C>A GRCh37
NC_000023.9:g.32382626C>A NCBI36
NG_012232.1:g.890022G>T , LRG_199:g.890022G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682899.1:n.3810+74G>T
ENST00000357033.9:c.3603+74G>T MANE Select ENSP00000354923.3:n.3603+74G>T
ENST00000357033.8:c.3603+74G>T ENSP00000354923.3:n.3603+74G>T
ENST00000378677.6:c.3591+74G>T ENSP00000367948.2:n.3591+74G>T
ENST00000420596.5:c.94-89389G>T ENSP00000399897.1:n.94-89389G>T
ENST00000448370.5:c.94-89878G>T ENSP00000388559.1:n.94-89878G>T
ENST00000488902.5:n.336-237525G>T
ENST00000619831.4:c.3591+74G>T ENSP00000479270.1:n.3591+74G>T
ENST00000620040.4:c.3603+74G>T ENSP00000478150.1:n.3603+74G>T
NM_000109.3:c.3579+74G>T NP_000100.2:n.3579+74G>T
NM_004006.2:c.3603+74G>T , LRG_199t1:c.3603+74G>T NP_003997.1:n.3603+74G>T
NM_004009.3:c.3591+74G>T NP_004000.1:n.3591+74G>T
NM_004010.3:c.3234+74G>T NP_004001.1:n.3234+74G>T
XM_006724468.2:c.3603+74G>T XP_006724531.1:n.3603+74G>T
XM_006724469.2:c.3579+74G>T XP_006724532.1:n.3579+74G>T
XM_006724470.2:c.3603+74G>T XP_006724533.1:n.3603+74G>T
XM_006724471.2:c.3603+74G>T XP_006724534.1:n.3603+74G>T
XM_006724472.2:c.3474+74G>T XP_006724535.1:n.3474+74G>T
XM_006724473.2:c.3603+74G>T XP_006724536.1:n.3603+74G>T
XM_006724474.2:c.3603+74G>T XP_006724537.1:n.3603+74G>T
XM_006724475.2:c.3603+74G>T XP_006724538.1:n.3603+74G>T
XM_011545467.1:c.3603+74G>T XP_011543769.1:n.3603+74G>T
XM_011545468.1:c.3603+74G>T XP_011543770.1:n.3603+74G>T
XM_011545469.1:c.3603+74G>T XP_011543771.1:n.3603+74G>T
XM_006724469.3:c.3579+74G>T XP_006724532.1:n.3579+74G>T
XM_006724470.3:c.3603+74G>T XP_006724533.1:n.3603+74G>T
XM_006724474.3:c.3603+74G>T XP_006724537.1:n.3603+74G>T
XM_011545468.2:c.3603+74G>T XP_011543770.1:n.3603+74G>T
XM_017029328.1:c.3603+74G>T XP_016884817.1:n.3603+74G>T
XM_017029329.1:c.3603+74G>T XP_016884818.1:n.3603+74G>T
XM_017029330.2:c.3603+74G>T XP_016884819.1:n.3603+74G>T
NM_000109.4:c.3579+74G>T NP_000100.3:n.3579+74G>T
NM_004006.3:c.3603+74G>T MANE Select NP_003997.2:n.3603+74G>T