Canonical Allele Identifier: CA3067729252
Community Standard Title: NM_004006.3(DMD):c.1332-3C=
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32614456G= , CM000685.2:g.32614456G= GRCh38
NC_000023.10:g.32632573G= , CM000685.1:g.32632573G= GRCh37
NC_000023.9:g.32542494G= NCBI36
NG_012232.1:g.730154C= , LRG_199:g.730154C=

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.1332-3C= MANE Select NP_003997.2:n.1332-3C=
ENST00000357033.9:c.1332-3C= MANE Select ENSP00000354923.3:n.1332-3C=
NM_000109.3:c.1308-3C= NP_000100.2:n.1308-3C=
NM_000109.4:c.1308-3C= NP_000100.3:n.1308-3C=
NM_004006.2:c.1332-3C= , LRG_199t1:c.1332-3C= NP_003997.1:n.1332-3C=
NM_004009.3:c.1320-3C= NP_004000.1:n.1320-3C=
NM_004010.3:c.963-3C= NP_004001.1:n.963-3C=
ENST00000288447.8:c.1308-3C= ENSP00000288447.4:n.1308-3C=
ENST00000288447.9:c.1308-3C= ENSP00000288447.4:n.1308-3C=
ENST00000357033.8:c.1332-3C= ENSP00000354923.3:n.1332-3C=
ENST00000378677.6:c.1320-3C= ENSP00000367948.2:n.1320-3C=
ENST00000420596.5:c.94-249257C= ENSP00000399897.1:n.94-249257C=
ENST00000447523.1:c.247-40610C= ENSP00000395904.1:n.247-40610C=
ENST00000448370.5:c.94-249746C= ENSP00000388559.1:n.94-249746C=
ENST00000480751.1:n.87-40610C=
ENST00000488902.5:n.336-397393C=
ENST00000619831.4:c.1320-3C= ENSP00000479270.1:n.1320-3C=
ENST00000620040.4:c.1332-3C= ENSP00000478150.1:n.1332-3C=
ENST00000682071.1:c.963-3C= ENSP00000508133.1:n.963-3C=
ENST00000682899.1:n.1539-3C=
ENST00000682924.1:c.1332-18580C= ENSP00000508187.1:n.1332-18580C=
ENST00000683985.1:n.1539-3C=
ENST00000684165.1:n.1539-3C=
ENST00000684237.1:c.1203-3C= ENSP00000507277.1:n.1203-3C=
ENST00000684292.1:n.1539-3C=
XM_006724468.2:c.1332-3C= XP_006724531.1:n.1332-3C=
XM_006724469.2:c.1308-3C= XP_006724532.1:n.1308-3C=
XM_006724469.3:c.1308-3C= XP_006724532.1:n.1308-3C=
XM_006724470.2:c.1332-3C= XP_006724533.1:n.1332-3C=
XM_006724470.3:c.1332-3C= XP_006724533.1:n.1332-3C=
XM_006724471.2:c.1332-3C= XP_006724534.1:n.1332-3C=
XM_006724472.2:c.1203-3C= XP_006724535.1:n.1203-3C=
XM_006724473.2:c.1332-3C= XP_006724536.1:n.1332-3C=
XM_006724474.2:c.1332-3C= XP_006724537.1:n.1332-3C=
XM_006724474.3:c.1332-3C= XP_006724537.1:n.1332-3C=
XM_006724475.2:c.1332-3C= XP_006724538.1:n.1332-3C=
XM_011545467.1:c.1332-3C= XP_011543769.1:n.1332-3C=
XM_011545468.1:c.1332-3C= XP_011543770.1:n.1332-3C=
XM_011545468.2:c.1332-3C= XP_011543770.1:n.1332-3C=
XM_011545469.1:c.1332-3C= XP_011543771.1:n.1332-3C=
XM_017029328.1:c.1332-3C= XP_016884817.1:n.1332-3C=
XM_017029329.1:c.1332-3C= XP_016884818.1:n.1332-3C=
XM_017029330.2:c.1332-3C= XP_016884819.1:n.1332-3C=