Canonical Allele Identifier: CA515859344

Gene: DMD

Linked Data

• ClinVar Variation Id: 2973707
• ClinVar RCV Id: RCV003833281
• MyVariant Identifiers: chrX:g.31792176T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774059T>C , CM000685.2:g.31774059T>C	GRCh38
NC_000023.10:g.31792176T>C , CM000685.1:g.31792176T>C	GRCh37
NC_000023.9:g.31702097T>C	NCBI36
NG_012232.1:g.1570551A>G , LRG_199:g.1570551A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2289A>G	ENSP00000350765.3:p.Glu763=
ENST00000682238.1:c.63A>G	ENSP00000508124.1:p.Glu21=
ENST00000683117.1:n.1104A>G
ENST00000683450.1:n.1026A>G
ENST00000683851.1:n.1104A>G
ENST00000683957.1:n.935A>G
ENST00000684130.1:c.63A>G	ENSP00000508037.1:p.Glu21=
ENST00000357033.9:c.7443A>G MANE Select	ENSP00000354923.3:p.Glu2481=
ENST00000619831.5:c.3411A>G	ENSP00000479270.2:p.Glu1137=
ENST00000620040.5:c.63A>G	ENSP00000478150.2:p.Glu21=
ENST00000680961.1:c.63A>G	ENSP00000506386.1:p.Glu21=
ENST00000681646.1:n.1104A>G
ENST00000681839.1:c.432A>G	ENSP00000505228.1:p.Glu144=
ENST00000357033.8:c.7443A>G	ENSP00000354923.3:p.Glu2481=
ENST00000358062.6:c.531A>G	ENSP00000350765.2:p.Glu177=
ENST00000359836.5:c.63A>G	ENSP00000352894.1:p.Glu21=
ENST00000378677.6:c.7431A>G	ENSP00000367948.2:p.Glu2477=
ENST00000378707.7:c.63A>G	ENSP00000367979.3:p.Glu21=
ENST00000471779.1:c.200A>G	ENSP00000417075.1:n.200A>G
ENST00000474231.5:c.63A>G	ENSP00000417123.1:p.Glu21=
ENST00000541735.5:c.63A>G	ENSP00000444119.1:p.Glu21=
ENST00000619831.4:c.7428A>G	ENSP00000479270.1:p.Glu2476=
ENST00000620040.4:c.7440A>G	ENSP00000478150.1:p.Glu2480=
NM_000109.3:c.7419A>G	NP_000100.2:p.Glu2473=
NM_004006.2:c.7443A>G , LRG_199t1:c.7443A>G	NP_003997.1:p.Glu2481=
NM_004009.3:c.7431A>G	NP_004000.1:p.Glu2477=
NM_004010.3:c.7074A>G	NP_004001.1:p.Glu2358=
NM_004011.3:c.3420A>G	NP_004002.2:p.Glu1140=
NM_004012.3:c.3411A>G	NP_004003.1:p.Glu1137=
NM_004013.2:c.63A>G	NP_004004.1:p.Glu21=
NM_004020.3:c.63A>G	NP_004011.2:p.Glu21=
NM_004021.2:c.63A>G	NP_004012.1:p.Glu21=
NM_004022.2:c.63A>G	NP_004013.1:p.Glu21=
NM_004023.2:c.63A>G	NP_004014.1:p.Glu21=
XM_006724468.2:c.7443A>G	XP_006724531.1:p.Glu2481=
XM_006724469.2:c.7419A>G	XP_006724532.1:p.Glu2473=
XM_006724470.2:c.7443A>G	XP_006724533.1:p.Glu2481=
XM_006724471.2:c.7443A>G	XP_006724534.1:p.Glu2481=
XM_006724472.2:c.7314A>G	XP_006724535.1:p.Glu2438=
XM_006724473.2:c.7305A>G	XP_006724536.1:p.Glu2435=
XM_006724474.2:c.7443A>G	XP_006724537.1:p.Glu2481=
XM_006724475.2:c.7443A>G	XP_006724538.1:p.Glu2481=
XM_011545467.1:c.7320A>G	XP_011543769.1:p.Glu2440=
XM_011545468.1:c.7443A>G	XP_011543770.1:p.Glu2481=
XM_006724469.3:c.7419A>G	XP_006724532.1:p.Glu2473=
XM_006724470.3:c.7443A>G	XP_006724533.1:p.Glu2481=
XM_006724474.3:c.7443A>G	XP_006724537.1:p.Glu2481=
XM_011545468.2:c.7443A>G	XP_011543770.1:p.Glu2481=
XM_017029328.1:c.7443A>G	XP_016884817.1:p.Glu2481=
XM_017029331.1:c.1617A>G	XP_016884820.1:p.Glu539=
NM_000109.4:c.7419A>G	NP_000100.3:p.Glu2473=
NM_004006.3:c.7443A>G MANE Select	NP_003997.2:p.Glu2481=
NM_004011.4:c.3420A>G	NP_004002.3:p.Glu1140=
NM_004012.4:c.3411A>G	NP_004003.2:p.Glu1137=
NM_004021.3:c.63A>G	NP_004012.2:p.Glu21=
NM_004023.3:c.63A>G	NP_004014.2:p.Glu21=
NM_004013.3:c.63A>G	NP_004004.2:p.Glu21=
NM_004020.4:c.63A>G	NP_004011.3:p.Glu21=
NM_004022.3:c.63A>G	NP_004013.2:p.Glu21=