Canonical Allele Identifier: CA412657155

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31627721C>G , CM000685.2:g.31627721C>G	GRCh38
NC_000023.10:g.31645838C>G , CM000685.1:g.31645838C>G	GRCh37
NC_000023.9:g.31555759C>G	NCBI36
NG_012232.1:g.1716889G>C , LRG_199:g.1716889G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.8169G>C MANE Select	NP_003997.2:p.Arg2723Ser
ENST00000357033.9:c.8169G>C MANE Select	ENSP00000354923.3:p.Arg2723Ser
NM_000109.3:c.8145G>C	NP_000100.2:p.Arg2715Ser
NM_000109.4:c.8145G>C	NP_000100.3:p.Arg2715Ser
NM_004006.2:c.8169G>C , LRG_199t1:c.8169G>C	NP_003997.1:p.Arg2723Ser
NM_004009.3:c.8157G>C	NP_004000.1:p.Arg2719Ser
NM_004010.3:c.7800G>C	NP_004001.1:p.Arg2600Ser
NM_004011.3:c.4146G>C	NP_004002.2:p.Arg1382Ser
NM_004011.4:c.4146G>C	NP_004002.3:p.Arg1382Ser
NM_004012.3:c.4137G>C	NP_004003.1:p.Arg1379Ser
NM_004012.4:c.4137G>C	NP_004003.2:p.Arg1379Ser
NM_004013.2:c.789G>C	NP_004004.1:p.Arg263Ser
NM_004013.3:c.789G>C	NP_004004.2:p.Arg263Ser
NM_004020.3:c.789G>C	NP_004011.2:p.Arg263Ser
NM_004020.4:c.789G>C	NP_004011.3:p.Arg263Ser
NM_004021.2:c.789G>C	NP_004012.1:p.Arg263Ser
NM_004021.3:c.789G>C	NP_004012.2:p.Arg263Ser
NM_004022.2:c.789G>C	NP_004013.1:p.Arg263Ser
NM_004022.3:c.789G>C	NP_004013.2:p.Arg263Ser
NM_004023.2:c.789G>C	NP_004014.1:p.Arg263Ser
NM_004023.3:c.789G>C	NP_004014.2:p.Arg263Ser
ENST00000357033.8:c.8169G>C	ENSP00000354923.3:p.Arg2723Ser
ENST00000358062.6:c.1257G>C	ENSP00000350765.2:p.Arg419Ser
ENST00000358062.7:c.3015G>C	ENSP00000350765.3:p.Arg1005Ser
ENST00000359836.5:c.789G>C	ENSP00000352894.1:p.Arg263Ser
ENST00000378677.6:c.8157G>C	ENSP00000367948.2:p.Arg2719Ser
ENST00000378707.7:c.789G>C	ENSP00000367979.3:p.Arg263Ser
ENST00000474231.5:c.789G>C	ENSP00000417123.1:p.Arg263Ser
ENST00000541735.5:c.789G>C	ENSP00000444119.1:p.Arg263Ser
ENST00000619831.4:c.8154G>C	ENSP00000479270.1:p.Arg2718Ser
ENST00000619831.5:c.4137G>C	ENSP00000479270.2:p.Arg1379Ser
ENST00000620040.4:c.8166G>C	ENSP00000478150.1:p.Arg2722Ser
ENST00000620040.5:c.789G>C	ENSP00000478150.2:p.Arg263Ser
ENST00000680961.1:c.789G>C	ENSP00000506386.1:p.Arg263Ser
ENST00000681646.1:n.1830G>C
ENST00000682238.1:c.789G>C	ENSP00000508124.1:p.Arg263Ser
ENST00000683450.1:n.1634G>C
ENST00000683851.1:n.1830G>C
ENST00000683957.1:n.1661G>C
ENST00000684130.1:c.789G>C	ENSP00000508037.1:p.Arg263Ser
XM_006724468.2:c.8169G>C	XP_006724531.1:p.Arg2723Ser
XM_006724469.2:c.8145G>C	XP_006724532.1:p.Arg2715Ser
XM_006724469.3:c.8145G>C	XP_006724532.1:p.Arg2715Ser
XM_006724470.2:c.8169G>C	XP_006724533.1:p.Arg2723Ser
XM_006724470.3:c.8169G>C	XP_006724533.1:p.Arg2723Ser
XM_006724471.2:c.8169G>C	XP_006724534.1:p.Arg2723Ser
XM_006724472.2:c.8040G>C	XP_006724535.1:p.Arg2680Ser
XM_006724473.2:c.8031G>C	XP_006724536.1:p.Arg2677Ser
XM_006724474.2:c.8169G>C	XP_006724537.1:p.Arg2723Ser
XM_006724474.3:c.8169G>C	XP_006724537.1:p.Arg2723Ser
XM_006724475.2:c.8169G>C	XP_006724538.1:p.Arg2723Ser
XM_011545467.1:c.8046G>C	XP_011543769.1:p.Arg2682Ser
XM_011545468.1:c.8169G>C	XP_011543770.1:p.Arg2723Ser
XM_011545468.2:c.8169G>C	XP_011543770.1:p.Arg2723Ser
XM_017029328.1:c.8169G>C	XP_016884817.1:p.Arg2723Ser
XM_017029331.1:c.2343G>C	XP_016884820.1:p.Arg781Ser