Canonical Allele Identifier: CA412660193

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31875337C>A , CM000685.2:g.31875337C>A	GRCh38
NC_000023.10:g.31893454C>A , CM000685.1:g.31893454C>A	GRCh37
NC_000023.9:g.31803375C>A	NCBI36
NG_012232.1:g.1469273G>T , LRG_199:g.1469273G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.6949G>T MANE Select	NP_003997.2:p.Glu2317Ter
ENST00000357033.9:c.6949G>T MANE Select	ENSP00000354923.3:p.Glu2317Ter
NM_000109.3:c.6925G>T	NP_000100.2:p.Glu2309Ter
NM_000109.4:c.6925G>T	NP_000100.3:p.Glu2309Ter
NM_004006.2:c.6949G>T , LRG_199t1:c.6949G>T	NP_003997.1:p.Glu2317Ter
NM_004009.3:c.6937G>T	NP_004000.1:p.Glu2313Ter
NM_004010.3:c.6580G>T	NP_004001.1:p.Glu2194Ter
NM_004011.3:c.2926G>T	NP_004002.2:p.Glu976Ter
NM_004011.4:c.2926G>T	NP_004002.3:p.Glu976Ter
NM_004012.3:c.2917G>T	NP_004003.1:p.Glu973Ter
NM_004012.4:c.2917G>T	NP_004003.2:p.Glu973Ter
NM_004013.2:c.-432G>T	NP_004004.1:n.-432G>T
NM_004013.3:c.-432G>T	NP_004004.2:n.-432G>T
NM_004020.3:c.-432G>T	NP_004011.2:n.-432G>T
NM_004020.4:c.-432G>T	NP_004011.3:n.-432G>T
NM_004021.2:c.-432G>T	NP_004012.1:n.-432G>T
NM_004021.3:c.-432G>T	NP_004012.2:n.-432G>T
NM_004022.2:c.-432G>T	NP_004013.1:n.-432G>T
NM_004022.3:c.-432G>T	NP_004013.2:n.-432G>T
NM_004023.2:c.-432G>T	NP_004014.1:n.-432G>T
NM_004023.3:c.-432G>T	NP_004014.2:n.-432G>T
ENST00000357033.8:c.6949G>T	ENSP00000354923.3:p.Glu2317Ter
ENST00000358062.6:c.37G>T	ENSP00000350765.2:p.Glu13Ter
ENST00000358062.7:c.1795G>T	ENSP00000350765.3:p.Glu599Ter
ENST00000359836.5:c.-432G>T	ENSP00000352894.1:n.-432G>T
ENST00000378677.6:c.6937G>T	ENSP00000367948.2:p.Glu2313Ter
ENST00000378707.7:c.-432G>T	ENSP00000367979.3:n.-432G>T
ENST00000474231.5:c.-432G>T	ENSP00000417123.1:n.-432G>T
ENST00000541735.5:c.-432G>T	ENSP00000444119.1:n.-432G>T
ENST00000619831.4:c.6934G>T	ENSP00000479270.1:p.Glu2312Ter
ENST00000619831.5:c.2917G>T	ENSP00000479270.2:p.Glu973Ter
ENST00000620040.4:c.6946G>T	ENSP00000478150.1:p.Glu2316Ter
ENST00000620040.5:c.-432G>T	ENSP00000478150.2:n.-432G>T
ENST00000680961.1:c.-432G>T	ENSP00000506386.1:n.-432G>T
ENST00000681646.1:n.610G>T
ENST00000682238.1:c.-432G>T	ENSP00000508124.1:n.-432G>T
ENST00000683117.1:n.610G>T
ENST00000683450.1:n.532G>T
ENST00000683851.1:n.610G>T
ENST00000683957.1:n.441G>T
ENST00000684130.1:c.-432G>T	ENSP00000508037.1:n.-432G>T
XM_006724468.2:c.6949G>T	XP_006724531.1:p.Glu2317Ter
XM_006724469.2:c.6925G>T	XP_006724532.1:p.Glu2309Ter
XM_006724469.3:c.6925G>T	XP_006724532.1:p.Glu2309Ter
XM_006724470.2:c.6949G>T	XP_006724533.1:p.Glu2317Ter
XM_006724470.3:c.6949G>T	XP_006724533.1:p.Glu2317Ter
XM_006724471.2:c.6949G>T	XP_006724534.1:p.Glu2317Ter
XM_006724472.2:c.6820G>T	XP_006724535.1:p.Glu2274Ter
XM_006724473.2:c.6811G>T	XP_006724536.1:p.Glu2271Ter
XM_006724474.2:c.6949G>T	XP_006724537.1:p.Glu2317Ter
XM_006724474.3:c.6949G>T	XP_006724537.1:p.Glu2317Ter
XM_006724475.2:c.6949G>T	XP_006724538.1:p.Glu2317Ter
XM_011545467.1:c.6826G>T	XP_011543769.1:p.Glu2276Ter
XM_011545468.1:c.6949G>T	XP_011543770.1:p.Glu2317Ter
XM_011545468.2:c.6949G>T	XP_011543770.1:p.Glu2317Ter
XM_017029328.1:c.6949G>T	XP_016884817.1:p.Glu2317Ter
XM_017029331.1:c.1123G>T	XP_016884820.1:p.Glu375Ter