Canonical Allele Identifier: CA267002
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 1322378
ClinVar RCV Id: RCV002471157
dbSNP Id: rs398123939

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32454833C>T , CM000685.2:g.32454833C>T GRCh38
NC_000023.10:g.32472950C>T , CM000685.1:g.32472950C>T GRCh37
NC_000023.9:g.32382871C>T NCBI36
NG_012232.1:g.889777G>A , LRG_199:g.889777G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682899.1:n.3640-1G>A
ENST00000357033.9:c.3433-1G>A MANE Select ENSP00000354923.3:n.3433-1G>A
ENST00000357033.8:c.3433-1G>A ENSP00000354923.3:n.3433-1G>A
ENST00000378677.6:c.3421-1G>A ENSP00000367948.2:n.3421-1G>A
ENST00000420596.5:c.94-89634G>A ENSP00000399897.1:n.94-89634G>A
ENST00000448370.5:c.94-90123G>A ENSP00000388559.1:n.94-90123G>A
ENST00000488902.5:n.336-237770G>A
ENST00000619831.4:c.3421-1G>A ENSP00000479270.1:n.3421-1G>A
ENST00000620040.4:c.3433-1G>A ENSP00000478150.1:n.3433-1G>A
NM_000109.3:c.3409-1G>A NP_000100.2:n.3409-1G>A
NM_004006.2:c.3433-1G>A , LRG_199t1:c.3433-1G>A NP_003997.1:n.3433-1G>A
NM_004009.3:c.3421-1G>A NP_004000.1:n.3421-1G>A
NM_004010.3:c.3064-1G>A NP_004001.1:n.3064-1G>A
XM_006724468.2:c.3433-1G>A XP_006724531.1:n.3433-1G>A
XM_006724469.2:c.3409-1G>A XP_006724532.1:n.3409-1G>A
XM_006724470.2:c.3433-1G>A XP_006724533.1:n.3433-1G>A
XM_006724471.2:c.3433-1G>A XP_006724534.1:n.3433-1G>A
XM_006724472.2:c.3304-1G>A XP_006724535.1:n.3304-1G>A
XM_006724473.2:c.3433-1G>A XP_006724536.1:n.3433-1G>A
XM_006724474.2:c.3433-1G>A XP_006724537.1:n.3433-1G>A
XM_006724475.2:c.3433-1G>A XP_006724538.1:n.3433-1G>A
XM_011545467.1:c.3433-1G>A XP_011543769.1:n.3433-1G>A
XM_011545468.1:c.3433-1G>A XP_011543770.1:n.3433-1G>A
XM_011545469.1:c.3433-1G>A XP_011543771.1:n.3433-1G>A
XM_006724469.3:c.3409-1G>A XP_006724532.1:n.3409-1G>A
XM_006724470.3:c.3433-1G>A XP_006724533.1:n.3433-1G>A
XM_006724474.3:c.3433-1G>A XP_006724537.1:n.3433-1G>A
XM_011545468.2:c.3433-1G>A XP_011543770.1:n.3433-1G>A
XM_017029328.1:c.3433-1G>A XP_016884817.1:n.3433-1G>A
XM_017029329.1:c.3433-1G>A XP_016884818.1:n.3433-1G>A
XM_017029330.2:c.3433-1G>A XP_016884819.1:n.3433-1G>A
NM_000109.4:c.3409-1G>A NP_000100.3:n.3409-1G>A
NM_004006.3:c.3433-1G>A MANE Select NP_003997.2:n.3433-1G>A