Canonical Allele Identifier: CA412674844

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32849744A>C , CM000685.2:g.32849744A>C	GRCh38
NC_000023.10:g.32867861A>C , CM000685.1:g.32867861A>C	GRCh37
NC_000023.9:g.32777782A>C	NCBI36
NG_012232.1:g.494866T>G , LRG_199:g.494866T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.170T>G MANE Select	NP_003997.2:p.Leu57Arg
ENST00000357033.9:c.170T>G MANE Select	ENSP00000354923.3:p.Leu57Arg
NM_000109.3:c.146T>G	NP_000100.2:p.Leu49Arg
NM_000109.4:c.146T>G	NP_000100.3:p.Leu49Arg
NM_004006.2:c.170T>G , LRG_199t1:c.170T>G	NP_003997.1:p.Leu57Arg
NM_004009.3:c.158T>G	NP_004000.1:p.Leu53Arg
NM_004010.3:c.-200T>G	NP_004001.1:n.-200T>G
ENST00000288447.8:c.146T>G	ENSP00000288447.4:p.Leu49Arg
ENST00000288447.9:c.146T>G	ENSP00000288447.4:p.Leu49Arg
ENST00000357033.8:c.170T>G	ENSP00000354923.3:p.Leu57Arg
ENST00000378677.6:c.158T>G	ENSP00000367948.2:p.Leu53Arg
ENST00000420596.5:c.93+170395T>G	ENSP00000399897.1:n.93+170395T>G
ENST00000447523.1:c.59T>G	ENSP00000395904.1:p.Leu20Arg
ENST00000448370.5:c.93+170395T>G	ENSP00000388559.1:n.93+170395T>G
ENST00000472681.1:n.355T>G
ENST00000488902.5:n.335+170395T>G
ENST00000619831.4:c.158T>G	ENSP00000479270.1:p.Leu53Arg
ENST00000620040.4:c.170T>G	ENSP00000478150.1:p.Leu57Arg
ENST00000682071.1:c.-200T>G	ENSP00000508133.1:n.-200T>G
ENST00000682437.1:n.494T>G
ENST00000682584.1:n.494T>G
ENST00000682870.1:n.355T>G
ENST00000682899.1:n.377T>G
ENST00000682924.1:c.170T>G	ENSP00000508187.1:p.Leu57Arg
ENST00000683309.1:n.354T>G
ENST00000683658.1:n.515T>G
ENST00000683985.1:n.377T>G
ENST00000684056.1:n.354T>G
ENST00000684165.1:n.377T>G
ENST00000684237.1:c.170T>G	ENSP00000507277.1:p.Leu57Arg
ENST00000684292.1:n.377T>G
ENST00000684357.1:n.354T>G
ENST00000684660.1:n.355T>G
XM_006724468.2:c.170T>G	XP_006724531.1:p.Leu57Arg
XM_006724469.2:c.146T>G	XP_006724532.1:p.Leu49Arg
XM_006724469.3:c.146T>G	XP_006724532.1:p.Leu49Arg
XM_006724470.2:c.170T>G	XP_006724533.1:p.Leu57Arg
XM_006724470.3:c.170T>G	XP_006724533.1:p.Leu57Arg
XM_006724471.2:c.170T>G	XP_006724534.1:p.Leu57Arg
XM_006724472.2:c.170T>G	XP_006724535.1:p.Leu57Arg
XM_006724473.2:c.170T>G	XP_006724536.1:p.Leu57Arg
XM_006724474.2:c.170T>G	XP_006724537.1:p.Leu57Arg
XM_006724474.3:c.170T>G	XP_006724537.1:p.Leu57Arg
XM_006724475.2:c.170T>G	XP_006724538.1:p.Leu57Arg
XM_011545467.1:c.170T>G	XP_011543769.1:p.Leu57Arg
XM_011545468.1:c.170T>G	XP_011543770.1:p.Leu57Arg
XM_011545468.2:c.170T>G	XP_011543770.1:p.Leu57Arg
XM_011545469.1:c.170T>G	XP_011543771.1:p.Leu57Arg
XM_017029328.1:c.170T>G	XP_016884817.1:p.Leu57Arg
XM_017029329.1:c.170T>G	XP_016884818.1:p.Leu57Arg
XM_017029330.2:c.170T>G	XP_016884819.1:p.Leu57Arg