Canonical Allele Identifier: CA412658910

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31792172T>C (hg19) ; chrX:g.31774055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774055T>C , CM000685.2:g.31774055T>C	GRCh38
NC_000023.10:g.31792172T>C , CM000685.1:g.31792172T>C	GRCh37
NC_000023.9:g.31702093T>C	NCBI36
NG_012232.1:g.1570555A>G , LRG_199:g.1570555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2293A>G	ENSP00000350765.3:p.Thr765Ala
ENST00000682238.1:c.67A>G	ENSP00000508124.1:p.Thr23Ala
ENST00000683117.1:n.1108A>G
ENST00000683450.1:n.1030A>G
ENST00000683851.1:n.1108A>G
ENST00000683957.1:n.939A>G
ENST00000684130.1:c.67A>G	ENSP00000508037.1:p.Thr23Ala
ENST00000357033.9:c.7447A>G MANE Select	ENSP00000354923.3:p.Thr2483Ala
ENST00000619831.5:c.3415A>G	ENSP00000479270.2:p.Thr1139Ala
ENST00000620040.5:c.67A>G	ENSP00000478150.2:p.Thr23Ala
ENST00000680961.1:c.67A>G	ENSP00000506386.1:p.Thr23Ala
ENST00000681646.1:n.1108A>G
ENST00000681839.1:c.436A>G	ENSP00000505228.1:p.Thr146Ala
ENST00000357033.8:c.7447A>G	ENSP00000354923.3:p.Thr2483Ala
ENST00000358062.6:c.535A>G	ENSP00000350765.2:p.Thr179Ala
ENST00000359836.5:c.67A>G	ENSP00000352894.1:p.Thr23Ala
ENST00000378677.6:c.7435A>G	ENSP00000367948.2:p.Thr2479Ala
ENST00000378707.7:c.67A>G	ENSP00000367979.3:p.Thr23Ala
ENST00000471779.1:c.204A>G	ENSP00000417075.1:n.204A>G
ENST00000474231.5:c.67A>G	ENSP00000417123.1:p.Thr23Ala
ENST00000541735.5:c.67A>G	ENSP00000444119.1:p.Thr23Ala
ENST00000619831.4:c.7432A>G	ENSP00000479270.1:p.Thr2478Ala
ENST00000620040.4:c.7444A>G	ENSP00000478150.1:p.Thr2482Ala
NM_000109.3:c.7423A>G	NP_000100.2:p.Thr2475Ala
NM_004006.2:c.7447A>G , LRG_199t1:c.7447A>G	NP_003997.1:p.Thr2483Ala
NM_004009.3:c.7435A>G	NP_004000.1:p.Thr2479Ala
NM_004010.3:c.7078A>G	NP_004001.1:p.Thr2360Ala
NM_004011.3:c.3424A>G	NP_004002.2:p.Thr1142Ala
NM_004012.3:c.3415A>G	NP_004003.1:p.Thr1139Ala
NM_004013.2:c.67A>G	NP_004004.1:p.Thr23Ala
NM_004020.3:c.67A>G	NP_004011.2:p.Thr23Ala
NM_004021.2:c.67A>G	NP_004012.1:p.Thr23Ala
NM_004022.2:c.67A>G	NP_004013.1:p.Thr23Ala
NM_004023.2:c.67A>G	NP_004014.1:p.Thr23Ala
XM_006724468.2:c.7447A>G	XP_006724531.1:p.Thr2483Ala
XM_006724469.2:c.7423A>G	XP_006724532.1:p.Thr2475Ala
XM_006724470.2:c.7447A>G	XP_006724533.1:p.Thr2483Ala
XM_006724471.2:c.7447A>G	XP_006724534.1:p.Thr2483Ala
XM_006724472.2:c.7318A>G	XP_006724535.1:p.Thr2440Ala
XM_006724473.2:c.7309A>G	XP_006724536.1:p.Thr2437Ala
XM_006724474.2:c.7447A>G	XP_006724537.1:p.Thr2483Ala
XM_006724475.2:c.7447A>G	XP_006724538.1:p.Thr2483Ala
XM_011545467.1:c.7324A>G	XP_011543769.1:p.Thr2442Ala
XM_011545468.1:c.7447A>G	XP_011543770.1:p.Thr2483Ala
XM_006724469.3:c.7423A>G	XP_006724532.1:p.Thr2475Ala
XM_006724470.3:c.7447A>G	XP_006724533.1:p.Thr2483Ala
XM_006724474.3:c.7447A>G	XP_006724537.1:p.Thr2483Ala
XM_011545468.2:c.7447A>G	XP_011543770.1:p.Thr2483Ala
XM_017029328.1:c.7447A>G	XP_016884817.1:p.Thr2483Ala
XM_017029331.1:c.1621A>G	XP_016884820.1:p.Thr541Ala
NM_000109.4:c.7423A>G	NP_000100.3:p.Thr2475Ala
NM_004006.3:c.7447A>G MANE Select	NP_003997.2:p.Thr2483Ala
NM_004011.4:c.3424A>G	NP_004002.3:p.Thr1142Ala
NM_004012.4:c.3415A>G	NP_004003.2:p.Thr1139Ala
NM_004021.3:c.67A>G	NP_004012.2:p.Thr23Ala
NM_004023.3:c.67A>G	NP_004014.2:p.Thr23Ala
NM_004013.3:c.67A>G	NP_004004.2:p.Thr23Ala
NM_004020.4:c.67A>G	NP_004011.3:p.Thr23Ala
NM_004022.3:c.67A>G	NP_004013.2:p.Thr23Ala