Canonical Allele Identifier: CA515859347

Gene: DMD

Linked Data

• ClinVar Variation Id: 1576409
• ClinVar RCV Id: RCV002085370
• dbSNP Id: rs2149245046
• gnomAD v4: X-31774062-T-C
• MyVariant Identifiers: chrX:g.31792179T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774062T>C , CM000685.2:g.31774062T>C	GRCh38
NC_000023.10:g.31792179T>C , CM000685.1:g.31792179T>C	GRCh37
NC_000023.9:g.31702100T>C	NCBI36
NG_012232.1:g.1570548A>G , LRG_199:g.1570548A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2286A>G	ENSP00000350765.3:p.Thr762=
ENST00000682238.1:c.60A>G	ENSP00000508124.1:p.Thr20=
ENST00000683117.1:n.1101A>G
ENST00000683450.1:n.1023A>G
ENST00000683851.1:n.1101A>G
ENST00000683957.1:n.932A>G
ENST00000684130.1:c.60A>G	ENSP00000508037.1:p.Thr20=
ENST00000357033.9:c.7440A>G MANE Select	ENSP00000354923.3:p.Thr2480=
ENST00000619831.5:c.3408A>G	ENSP00000479270.2:p.Thr1136=
ENST00000620040.5:c.60A>G	ENSP00000478150.2:p.Thr20=
ENST00000680961.1:c.60A>G	ENSP00000506386.1:p.Thr20=
ENST00000681646.1:n.1101A>G
ENST00000681839.1:c.429A>G	ENSP00000505228.1:p.Thr143=
ENST00000357033.8:c.7440A>G	ENSP00000354923.3:p.Thr2480=
ENST00000358062.6:c.528A>G	ENSP00000350765.2:p.Thr176=
ENST00000359836.5:c.60A>G	ENSP00000352894.1:p.Thr20=
ENST00000378677.6:c.7428A>G	ENSP00000367948.2:p.Thr2476=
ENST00000378707.7:c.60A>G	ENSP00000367979.3:p.Thr20=
ENST00000471779.1:c.197A>G	ENSP00000417075.1:n.197A>G
ENST00000474231.5:c.60A>G	ENSP00000417123.1:p.Thr20=
ENST00000541735.5:c.60A>G	ENSP00000444119.1:p.Thr20=
ENST00000619831.4:c.7425A>G	ENSP00000479270.1:p.Thr2475=
ENST00000620040.4:c.7437A>G	ENSP00000478150.1:p.Thr2479=
NM_000109.3:c.7416A>G	NP_000100.2:p.Thr2472=
NM_004006.2:c.7440A>G , LRG_199t1:c.7440A>G	NP_003997.1:p.Thr2480=
NM_004009.3:c.7428A>G	NP_004000.1:p.Thr2476=
NM_004010.3:c.7071A>G	NP_004001.1:p.Thr2357=
NM_004011.3:c.3417A>G	NP_004002.2:p.Thr1139=
NM_004012.3:c.3408A>G	NP_004003.1:p.Thr1136=
NM_004013.2:c.60A>G	NP_004004.1:p.Thr20=
NM_004020.3:c.60A>G	NP_004011.2:p.Thr20=
NM_004021.2:c.60A>G	NP_004012.1:p.Thr20=
NM_004022.2:c.60A>G	NP_004013.1:p.Thr20=
NM_004023.2:c.60A>G	NP_004014.1:p.Thr20=
XM_006724468.2:c.7440A>G	XP_006724531.1:p.Thr2480=
XM_006724469.2:c.7416A>G	XP_006724532.1:p.Thr2472=
XM_006724470.2:c.7440A>G	XP_006724533.1:p.Thr2480=
XM_006724471.2:c.7440A>G	XP_006724534.1:p.Thr2480=
XM_006724472.2:c.7311A>G	XP_006724535.1:p.Thr2437=
XM_006724473.2:c.7302A>G	XP_006724536.1:p.Thr2434=
XM_006724474.2:c.7440A>G	XP_006724537.1:p.Thr2480=
XM_006724475.2:c.7440A>G	XP_006724538.1:p.Thr2480=
XM_011545467.1:c.7317A>G	XP_011543769.1:p.Thr2439=
XM_011545468.1:c.7440A>G	XP_011543770.1:p.Thr2480=
XM_006724469.3:c.7416A>G	XP_006724532.1:p.Thr2472=
XM_006724470.3:c.7440A>G	XP_006724533.1:p.Thr2480=
XM_006724474.3:c.7440A>G	XP_006724537.1:p.Thr2480=
XM_011545468.2:c.7440A>G	XP_011543770.1:p.Thr2480=
XM_017029328.1:c.7440A>G	XP_016884817.1:p.Thr2480=
XM_017029331.1:c.1614A>G	XP_016884820.1:p.Thr538=
NM_000109.4:c.7416A>G	NP_000100.3:p.Thr2472=
NM_004006.3:c.7440A>G MANE Select	NP_003997.2:p.Thr2480=
NM_004011.4:c.3417A>G	NP_004002.3:p.Thr1139=
NM_004012.4:c.3408A>G	NP_004003.2:p.Thr1136=
NM_004021.3:c.60A>G	NP_004012.2:p.Thr20=
NM_004023.3:c.60A>G	NP_004014.2:p.Thr20=
NM_004013.3:c.60A>G	NP_004004.2:p.Thr20=
NM_004020.4:c.60A>G	NP_004011.3:p.Thr20=
NM_004022.3:c.60A>G	NP_004013.2:p.Thr20=