Canonical Allele Identifier: CA412656112

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31507302C>T , CM000685.2:g.31507302C>T	GRCh38
NC_000023.10:g.31525419C>T , CM000685.1:g.31525419C>T	GRCh37
NC_000023.9:g.31435340C>T	NCBI36
NG_012232.1:g.1837308G>A , LRG_199:g.1837308G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.8369G>A MANE Select	NP_003997.2:p.Arg2790Gln
ENST00000357033.9:c.8369G>A MANE Select	ENSP00000354923.3:p.Arg2790Gln
NM_000109.3:c.8345G>A	NP_000100.2:p.Arg2782Gln
NM_000109.4:c.8345G>A	NP_000100.3:p.Arg2782Gln
NM_004006.2:c.8369G>A , LRG_199t1:c.8369G>A	NP_003997.1:p.Arg2790Gln
NM_004009.3:c.8357G>A	NP_004000.1:p.Arg2786Gln
NM_004010.3:c.8000G>A	NP_004001.1:p.Arg2667Gln
NM_004011.3:c.4346G>A	NP_004002.2:p.Arg1449Gln
NM_004011.4:c.4346G>A	NP_004002.3:p.Arg1449Gln
NM_004012.3:c.4337G>A	NP_004003.1:p.Arg1446Gln
NM_004012.4:c.4337G>A	NP_004003.2:p.Arg1446Gln
NM_004013.2:c.989G>A	NP_004004.1:p.Arg330Gln
NM_004013.3:c.989G>A	NP_004004.2:p.Arg330Gln
NM_004014.2:c.182G>A	NP_004005.1:p.Arg61Gln
NM_004014.3:c.182G>A	NP_004005.2:p.Arg61Gln
NM_004020.3:c.989G>A	NP_004011.2:p.Arg330Gln
NM_004020.4:c.989G>A	NP_004011.3:p.Arg330Gln
NM_004021.2:c.989G>A	NP_004012.1:p.Arg330Gln
NM_004021.3:c.989G>A	NP_004012.2:p.Arg330Gln
NM_004022.2:c.989G>A	NP_004013.1:p.Arg330Gln
NM_004022.3:c.989G>A	NP_004013.2:p.Arg330Gln
NM_004023.2:c.989G>A	NP_004014.1:p.Arg330Gln
NM_004023.3:c.989G>A	NP_004014.2:p.Arg330Gln
ENST00000343523.6:c.182G>A	ENSP00000340057.3:p.Arg61Gln
ENST00000343523.7:c.224G>A	ENSP00000340057.4:p.Arg75Gln
ENST00000357033.8:c.8369G>A	ENSP00000354923.3:p.Arg2790Gln
ENST00000358062.6:c.1457G>A	ENSP00000350765.2:p.Arg486Gln
ENST00000358062.7:c.3215G>A	ENSP00000350765.3:p.Arg1072Gln
ENST00000359836.5:c.989G>A	ENSP00000352894.1:p.Arg330Gln
ENST00000378677.6:c.8357G>A	ENSP00000367948.2:p.Arg2786Gln
ENST00000378707.7:c.989G>A	ENSP00000367979.3:p.Arg330Gln
ENST00000445312.1:n.426G>A
ENST00000474231.5:c.989G>A	ENSP00000417123.1:p.Arg330Gln
ENST00000541735.5:c.989G>A	ENSP00000444119.1:p.Arg330Gln
ENST00000619831.4:c.8354G>A	ENSP00000479270.1:p.Arg2785Gln
ENST00000619831.5:c.4337G>A	ENSP00000479270.2:p.Arg1446Gln
ENST00000620040.4:c.8366G>A	ENSP00000478150.1:p.Arg2789Gln
ENST00000620040.5:c.989G>A	ENSP00000478150.2:p.Arg330Gln
ENST00000680961.1:c.989G>A	ENSP00000506386.1:p.Arg330Gln
ENST00000681646.1:n.2030G>A
ENST00000682238.1:c.989G>A	ENSP00000508124.1:p.Arg330Gln
ENST00000683450.1:n.1834G>A
ENST00000683957.1:n.1861G>A
ENST00000684130.1:c.989G>A	ENSP00000508037.1:p.Arg330Gln
XM_006724468.2:c.8369G>A	XP_006724531.1:p.Arg2790Gln
XM_006724469.2:c.8345G>A	XP_006724532.1:p.Arg2782Gln
XM_006724469.3:c.8345G>A	XP_006724532.1:p.Arg2782Gln
XM_006724470.2:c.8369G>A	XP_006724533.1:p.Arg2790Gln
XM_006724470.3:c.8369G>A	XP_006724533.1:p.Arg2790Gln
XM_006724471.2:c.8369G>A	XP_006724534.1:p.Arg2790Gln
XM_006724472.2:c.8240G>A	XP_006724535.1:p.Arg2747Gln
XM_006724473.2:c.8231G>A	XP_006724536.1:p.Arg2744Gln
XM_006724474.2:c.8369G>A	XP_006724537.1:p.Arg2790Gln
XM_006724474.3:c.8369G>A	XP_006724537.1:p.Arg2790Gln
XM_006724475.2:c.8369G>A	XP_006724538.1:p.Arg2790Gln
XM_011545467.1:c.8246G>A	XP_011543769.1:p.Arg2749Gln
XM_011545468.1:c.8369G>A	XP_011543770.1:p.Arg2790Gln
XM_011545468.2:c.8369G>A	XP_011543770.1:p.Arg2790Gln
XM_017029328.1:c.8369G>A	XP_016884817.1:p.Arg2790Gln
XM_017029331.1:c.2543G>A	XP_016884820.1:p.Arg848Gln