Canonical Allele Identifier: CA412655117

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31462639T>G (hg19) ; chrX:g.31444522T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444522T>G , CM000685.2:g.31444522T>G	GRCh38
NC_000023.10:g.31462639T>G , CM000685.1:g.31462639T>G	GRCh37
NC_000023.9:g.31372560T>G	NCBI36
NG_012232.1:g.1900088A>C , LRG_199:g.1900088A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.3889A>C	ENSP00000350765.3:p.Ser1297Arg
ENST00000682238.1:c.1663A>C	ENSP00000508124.1:p.Ser555Arg
ENST00000683450.1:n.2508A>C
ENST00000683957.1:n.2535A>C
ENST00000684130.1:c.1663A>C	ENSP00000508037.1:p.Ser555Arg
ENST00000343523.7:c.898A>C	ENSP00000340057.4:p.Ser300Arg
ENST00000357033.9:c.9043A>C MANE Select	ENSP00000354923.3:p.Ser3015Arg
ENST00000619831.5:c.5011A>C	ENSP00000479270.2:p.Ser1671Arg
ENST00000620040.5:c.1663A>C	ENSP00000478150.2:p.Ser555Arg
ENST00000680961.1:c.1663A>C	ENSP00000506386.1:p.Ser555Arg
ENST00000681646.1:n.2704A>C
ENST00000343523.6:c.856A>C	ENSP00000340057.3:p.Ser286Arg
ENST00000357033.8:c.9043A>C	ENSP00000354923.3:p.Ser3015Arg
ENST00000358062.6:c.2131A>C	ENSP00000350765.2:p.Ser711Arg
ENST00000359836.5:c.1663A>C	ENSP00000352894.1:p.Ser555Arg
ENST00000378677.6:c.9031A>C	ENSP00000367948.2:p.Ser3011Arg
ENST00000378707.7:c.1663A>C	ENSP00000367979.3:p.Ser555Arg
ENST00000474231.5:c.1663A>C	ENSP00000417123.1:p.Ser555Arg
ENST00000541735.5:c.1663A>C	ENSP00000444119.1:p.Ser555Arg
ENST00000619831.4:c.9028A>C	ENSP00000479270.1:p.Ser3010Arg
ENST00000620040.4:c.9040A>C	ENSP00000478150.1:p.Ser3014Arg
NM_000109.3:c.9019A>C	NP_000100.2:p.Ser3007Arg
NM_004006.2:c.9043A>C , LRG_199t1:c.9043A>C	NP_003997.1:p.Ser3015Arg
NM_004009.3:c.9031A>C	NP_004000.1:p.Ser3011Arg
NM_004010.3:c.8674A>C	NP_004001.1:p.Ser2892Arg
NM_004011.3:c.5020A>C	NP_004002.2:p.Ser1674Arg
NM_004012.3:c.5011A>C	NP_004003.1:p.Ser1671Arg
NM_004013.2:c.1663A>C	NP_004004.1:p.Ser555Arg
NM_004014.2:c.856A>C	NP_004005.1:p.Ser286Arg
NM_004020.3:c.1663A>C	NP_004011.2:p.Ser555Arg
NM_004021.2:c.1663A>C	NP_004012.1:p.Ser555Arg
NM_004022.2:c.1663A>C	NP_004013.1:p.Ser555Arg
NM_004023.2:c.1663A>C	NP_004014.1:p.Ser555Arg
XM_006724468.2:c.9043A>C	XP_006724531.1:p.Ser3015Arg
XM_006724469.2:c.9019A>C	XP_006724532.1:p.Ser3007Arg
XM_006724470.2:c.9043A>C	XP_006724533.1:p.Ser3015Arg
XM_006724471.2:c.9043A>C	XP_006724534.1:p.Ser3015Arg
XM_006724472.2:c.8914A>C	XP_006724535.1:p.Ser2972Arg
XM_006724473.2:c.8905A>C	XP_006724536.1:p.Ser2969Arg
XM_006724474.2:c.9043A>C	XP_006724537.1:p.Ser3015Arg
XM_006724475.2:c.9043A>C	XP_006724538.1:p.Ser3015Arg
XM_011545467.1:c.8920A>C	XP_011543769.1:p.Ser2974Arg
XM_011545468.1:c.9043A>C	XP_011543770.1:p.Ser3015Arg
XM_006724469.3:c.9019A>C	XP_006724532.1:p.Ser3007Arg
XM_006724470.3:c.9043A>C	XP_006724533.1:p.Ser3015Arg
XM_006724474.3:c.9043A>C	XP_006724537.1:p.Ser3015Arg
XM_011545468.2:c.9043A>C	XP_011543770.1:p.Ser3015Arg
XM_017029328.1:c.9043A>C	XP_016884817.1:p.Ser3015Arg
XM_017029331.1:c.3217A>C	XP_016884820.1:p.Ser1073Arg
NM_000109.4:c.9019A>C	NP_000100.3:p.Ser3007Arg
NM_004006.3:c.9043A>C MANE Select	NP_003997.2:p.Ser3015Arg
NM_004011.4:c.5020A>C	NP_004002.3:p.Ser1674Arg
NM_004012.4:c.5011A>C	NP_004003.2:p.Ser1671Arg
NM_004021.3:c.1663A>C	NP_004012.2:p.Ser555Arg
NM_004023.3:c.1663A>C	NP_004014.2:p.Ser555Arg
NM_004013.3:c.1663A>C	NP_004004.2:p.Ser555Arg
NM_004014.3:c.856A>C	NP_004005.2:p.Ser286Arg
NM_004020.4:c.1663A>C	NP_004011.3:p.Ser555Arg
NM_004022.3:c.1663A>C	NP_004013.2:p.Ser555Arg