Canonical Allele Identifier: CA10605988

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31147500A>T , CM000685.2:g.31147500A>T	GRCh38
NC_000023.10:g.31165617A>T , CM000685.1:g.31165617A>T	GRCh37
NC_000023.9:g.31075538A>T	NCBI36
NG_012232.1:g.2197110T>A , LRG_199:g.2197110T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10572T>A MANE Select	NP_003997.2:p.Tyr3524Ter
ENST00000357033.9:c.10572T>A MANE Select	ENSP00000354923.3:p.Tyr3524Ter
NM_000109.3:c.10548T>A	NP_000100.2:p.Tyr3516Ter
NM_000109.4:c.10548T>A	NP_000100.3:p.Tyr3516Ter
NM_004006.2:c.10572T>A , LRG_199t1:c.10572T>A	NP_003997.1:p.Tyr3524Ter
NM_004009.3:c.10560T>A	NP_004000.1:p.Tyr3520Ter
NM_004010.3:c.10203T>A	NP_004001.1:p.Tyr3401Ter
NM_004011.3:c.6549T>A	NP_004002.2:p.Tyr2183Ter
NM_004011.4:c.6549T>A	NP_004002.3:p.Tyr2183Ter
NM_004012.3:c.6540T>A	NP_004003.1:p.Tyr2180Ter
NM_004012.4:c.6540T>A	NP_004003.2:p.Tyr2180Ter
NM_004013.2:c.3192T>A	NP_004004.1:p.Tyr1064Ter
NM_004013.3:c.3192T>A	NP_004004.2:p.Tyr1064Ter
NM_004014.2:c.2385T>A	NP_004005.1:p.Tyr795Ter
NM_004014.3:c.2385T>A	NP_004005.2:p.Tyr795Ter
NM_004015.2:c.1368T>A	NP_004006.1:p.Tyr456Ter
NM_004015.3:c.1368T>A	NP_004006.1:p.Tyr456Ter
NM_004016.2:c.1368T>A	NP_004007.1:p.Tyr456Ter
NM_004016.3:c.1368T>A	NP_004007.1:p.Tyr456Ter
NM_004017.2:c.1329T>A	NP_004008.1:p.Tyr443Ter
NM_004017.3:c.1329T>A	NP_004008.1:p.Tyr443Ter
NM_004018.2:c.1329T>A	NP_004009.1:p.Tyr443Ter
NM_004018.3:c.1329T>A	NP_004009.1:p.Tyr443Ter
NM_004020.3:c.2862T>A	NP_004011.2:p.Tyr954Ter
NM_004020.4:c.2862T>A	NP_004011.3:p.Tyr954Ter
NM_004021.2:c.3192T>A	NP_004012.1:p.Tyr1064Ter
NM_004021.3:c.3192T>A	NP_004012.2:p.Tyr1064Ter
NM_004022.2:c.3153T>A	NP_004013.1:p.Tyr1051Ter
NM_004022.3:c.3153T>A	NP_004013.2:p.Tyr1051Ter
NM_004023.2:c.2862T>A	NP_004014.1:p.Tyr954Ter
NM_004023.3:c.2862T>A	NP_004014.2:p.Tyr954Ter
ENST00000343523.6:c.2385T>A	ENSP00000340057.3:p.Tyr795Ter
ENST00000343523.7:c.2427T>A	ENSP00000340057.4:p.Tyr809Ter
ENST00000357033.8:c.10572T>A	ENSP00000354923.3:p.Tyr3524Ter
ENST00000358062.6:c.3621T>A	ENSP00000350765.2:p.Tyr1207Ter
ENST00000358062.7:c.5379T>A	ENSP00000350765.3:p.Tyr1793Ter
ENST00000359836.5:c.3153T>A	ENSP00000352894.1:p.Tyr1051Ter
ENST00000361471.8:c.1329T>A	ENSP00000354464.4:p.Tyr443Ter
ENST00000378677.6:c.10560T>A	ENSP00000367948.2:p.Tyr3520Ter
ENST00000378680.6:c.1038T>A	ENSP00000367951.2:p.Tyr346Ter
ENST00000378702.8:c.1368T>A	ENSP00000367974.4:p.Tyr456Ter
ENST00000378707.7:c.3192T>A	ENSP00000367979.3:p.Tyr1064Ter
ENST00000378723.7:c.1368T>A	ENSP00000367997.3:p.Tyr456Ter
ENST00000474231.5:c.3192T>A	ENSP00000417123.1:p.Tyr1064Ter
ENST00000481143.2:n.114+21943T>A
ENST00000541735.5:c.2862T>A	ENSP00000444119.1:p.Tyr954Ter
ENST00000619831.4:c.10557T>A	ENSP00000479270.1:p.Tyr3519Ter
ENST00000619831.5:c.6540T>A	ENSP00000479270.2:p.Tyr2180Ter
ENST00000620040.4:c.10569T>A	ENSP00000478150.1:p.Tyr3523Ter
ENST00000620040.5:c.3153T>A	ENSP00000478150.2:p.Tyr1051Ter
ENST00000679437.1:c.234T>A	ENSP00000506629.1:p.Tyr78Ter
ENST00000679641.1:c.*244T>A	ENSP00000506135.1:n.*244T>A
ENST00000679706.1:c.199T>A
ENST00000679850.1:n.5583T>A
ENST00000680162.1:c.1245T>A	ENSP00000506634.1:p.Tyr415Ter
ENST00000680162.2:c.1263T>A	ENSP00000506634.2:p.Tyr421Ter
ENST00000680355.1:c.1038T>A	ENSP00000506257.1:p.Tyr346Ter
ENST00000680557.1:c.604-13306T>A	ENSP00000505164.1:n.604-13306T>A
ENST00000680701.1:n.347T>A
ENST00000680768.1:c.1272T>A	ENSP00000506359.1:p.Tyr424Ter
ENST00000680768.2:c.1329T>A	ENSP00000506359.2:p.Tyr443Ter
ENST00000680961.1:c.*535T>A	ENSP00000506386.1:n.*535T>A
ENST00000681026.1:c.234T>A	ENSP00000506689.1:p.Tyr78Ter
ENST00000681153.1:c.1329T>A	ENSP00000505124.1:p.Tyr443Ter
ENST00000681989.1:n.1370T>A
ENST00000682207.1:n.692T>A
ENST00000682238.1:c.2862T>A	ENSP00000508124.1:p.Tyr954Ter
ENST00000682322.1:c.1263T>A	ENSP00000507690.1:p.Tyr421Ter
ENST00000682600.1:c.1329T>A	ENSP00000507640.1:p.Tyr443Ter
ENST00000682769.1:n.1164T>A
ENST00000683503.1:n.2387T>A
ENST00000683509.1:n.2050T>A
ENST00000683675.1:n.1671T>A
ENST00000683709.1:n.2051T>A
ENST00000683957.1:n.4025T>A
ENST00000683995.1:n.717T>A
ENST00000684072.1:n.801T>A
ENST00000684103.1:n.980T>A
ENST00000684130.1:c.3153T>A	ENSP00000508037.1:p.Tyr1051Ter
ENST00000684342.1:n.1616T>A
ENST00000684350.1:n.2387T>A
XM_006724468.2:c.10572T>A	XP_006724531.1:p.Tyr3524Ter
XM_006724469.2:c.10548T>A	XP_006724532.1:p.Tyr3516Ter
XM_006724469.3:c.10548T>A	XP_006724532.1:p.Tyr3516Ter
XM_006724470.2:c.10533T>A	XP_006724533.1:p.Tyr3511Ter
XM_006724470.3:c.10533T>A	XP_006724533.1:p.Tyr3511Ter
XM_006724471.2:c.10467T>A	XP_006724534.1:p.Tyr3489Ter
XM_006724472.2:c.10443T>A	XP_006724535.1:p.Tyr3481Ter
XM_006724473.2:c.10434T>A	XP_006724536.1:p.Tyr3478Ter
XM_006724474.2:c.10242T>A	XP_006724537.1:p.Tyr3414Ter
XM_006724474.3:c.10242T>A	XP_006724537.1:p.Tyr3414Ter
XM_006724475.2:c.10242T>A	XP_006724538.1:p.Tyr3414Ter
XM_011545467.1:c.10449T>A	XP_011543769.1:p.Tyr3483Ter
XM_017029328.1:c.10533T>A	XP_016884817.1:p.Tyr3511Ter
XM_017029331.1:c.4746T>A	XP_016884820.1:p.Tyr1582Ter