Canonical Allele Identifier: CA412665262

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32342255T>A , CM000685.2:g.32342255T>A	GRCh38
NC_000023.10:g.32360372T>A , CM000685.1:g.32360372T>A	GRCh37
NC_000023.9:g.32270293T>A	NCBI36
NG_012232.1:g.1002355A>T , LRG_199:g.1002355A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.5767A>T MANE Select	NP_003997.2:p.Lys1923Ter
ENST00000357033.9:c.5767A>T MANE Select	ENSP00000354923.3:p.Lys1923Ter
NM_000109.3:c.5743A>T	NP_000100.2:p.Lys1915Ter
NM_000109.4:c.5743A>T	NP_000100.3:p.Lys1915Ter
NM_004006.2:c.5767A>T , LRG_199t1:c.5767A>T	NP_003997.1:p.Lys1923Ter
NM_004009.3:c.5755A>T	NP_004000.1:p.Lys1919Ter
NM_004010.3:c.5398A>T	NP_004001.1:p.Lys1800Ter
NM_004011.3:c.1744A>T	NP_004002.2:p.Lys582Ter
NM_004011.4:c.1744A>T	NP_004002.3:p.Lys582Ter
NM_004012.3:c.1735A>T	NP_004003.1:p.Lys579Ter
NM_004012.4:c.1735A>T	NP_004003.2:p.Lys579Ter
ENST00000357033.8:c.5767A>T	ENSP00000354923.3:p.Lys1923Ter
ENST00000358062.7:c.613A>T	ENSP00000350765.3:p.Lys205Ter
ENST00000378677.6:c.5755A>T	ENSP00000367948.2:p.Lys1919Ter
ENST00000488902.5:n.336-125192A>T
ENST00000619831.4:c.5755A>T	ENSP00000479270.1:p.Lys1919Ter
ENST00000619831.5:c.1735A>T	ENSP00000479270.2:p.Lys579Ter
ENST00000620040.4:c.5767A>T	ENSP00000478150.1:p.Lys1923Ter
XM_006724468.2:c.5767A>T	XP_006724531.1:p.Lys1923Ter
XM_006724469.2:c.5743A>T	XP_006724532.1:p.Lys1915Ter
XM_006724469.3:c.5743A>T	XP_006724532.1:p.Lys1915Ter
XM_006724470.2:c.5767A>T	XP_006724533.1:p.Lys1923Ter
XM_006724470.3:c.5767A>T	XP_006724533.1:p.Lys1923Ter
XM_006724471.2:c.5767A>T	XP_006724534.1:p.Lys1923Ter
XM_006724472.2:c.5638A>T	XP_006724535.1:p.Lys1880Ter
XM_006724473.2:c.5629A>T	XP_006724536.1:p.Lys1877Ter
XM_006724474.2:c.5767A>T	XP_006724537.1:p.Lys1923Ter
XM_006724474.3:c.5767A>T	XP_006724537.1:p.Lys1923Ter
XM_006724475.2:c.5767A>T	XP_006724538.1:p.Lys1923Ter
XM_011545467.1:c.5644A>T	XP_011543769.1:p.Lys1882Ter
XM_011545468.1:c.5767A>T	XP_011543770.1:p.Lys1923Ter
XM_011545468.2:c.5767A>T	XP_011543770.1:p.Lys1923Ter
XM_017029328.1:c.5767A>T	XP_016884817.1:p.Lys1923Ter
XM_017029329.1:c.5767A>T	XP_016884818.1:p.Lys1923Ter
XM_017029330.2:c.5767A>T	XP_016884819.1:p.Lys1923Ter
XM_017029331.1:c.-60A>T	XP_016884820.1:n.-60A>T