Canonical Allele Identifier: CA515858522

Gene: DMD

Linked Data

• ClinVar Variation Id: 1127324
• ClinVar RCV Id: RCV001459710
• dbSNP Id: rs1182774000
• gnomAD v2: X-31279076-A-G
• gnomAD v4: X-31260959-A-G
• MyVariant Identifiers: chrX:g.31279076A>G (hg19) ; chrX:g.31260959A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31260959A>G , CM000685.2:g.31260959A>G	GRCh38
NC_000023.10:g.31279076A>G , CM000685.1:g.31279076A>G	GRCh37
NC_000023.9:g.31188997A>G	NCBI36
NG_012232.1:g.2083651T>C , LRG_199:g.2083651T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4128T>C	ENSP00000350765.3:p.Ser1376=
ENST00000680162.2:c.78T>C	ENSP00000506634.2:p.Ser26=
ENST00000680768.2:c.78T>C	ENSP00000506359.2:p.Ser26=
ENST00000682238.1:c.1902T>C	ENSP00000508124.1:p.Ser634=
ENST00000682322.1:c.78T>C	ENSP00000507690.1:p.Ser26=
ENST00000682600.1:c.78T>C	ENSP00000507640.1:p.Ser26=
ENST00000683509.1:n.799T>C
ENST00000683675.1:n.381T>C
ENST00000683709.1:n.800T>C
ENST00000683957.1:n.2774T>C
ENST00000684130.1:c.1902T>C	ENSP00000508037.1:p.Ser634=
ENST00000343523.7:c.1137T>C	ENSP00000340057.4:p.Ser379=
ENST00000357033.9:c.9282T>C MANE Select	ENSP00000354923.3:p.Ser3094=
ENST00000619831.5:c.5250T>C	ENSP00000479270.2:p.Ser1750=
ENST00000620040.5:c.1902T>C	ENSP00000478150.2:p.Ser634=
ENST00000679641.1:c.78T>C	ENSP00000506135.1:p.Ser26=
ENST00000680216.1:c.58T>C
ENST00000680355.1:c.78T>C	ENSP00000506257.1:p.Ser26=
ENST00000680557.1:c.78T>C	ENSP00000505164.1:p.Ser26=
ENST00000680768.1:c.21T>C	ENSP00000506359.1:p.Ser7=
ENST00000680961.1:c.1902T>C	ENSP00000506386.1:p.Ser634=
ENST00000681153.1:c.78T>C	ENSP00000505124.1:p.Ser26=
ENST00000681334.1:c.78T>C	ENSP00000506066.1:p.Ser26=
ENST00000681646.1:n.2943T>C
ENST00000681654.1:n.212T>C
ENST00000681870.1:c.78T>C	ENSP00000506709.1:p.Ser26=
ENST00000343523.6:c.1095T>C	ENSP00000340057.3:p.Ser365=
ENST00000357033.8:c.9282T>C	ENSP00000354923.3:p.Ser3094=
ENST00000358062.6:c.2370T>C	ENSP00000350765.2:p.Ser790=
ENST00000359836.5:c.1902T>C	ENSP00000352894.1:p.Ser634=
ENST00000361471.8:c.78T>C	ENSP00000354464.4:p.Ser26=
ENST00000378677.6:c.9270T>C	ENSP00000367948.2:p.Ser3090=
ENST00000378680.6:c.78T>C	ENSP00000367951.2:p.Ser26=
ENST00000378702.8:c.78T>C	ENSP00000367974.4:p.Ser26=
ENST00000378707.7:c.1902T>C	ENSP00000367979.3:p.Ser634=
ENST00000378723.7:c.78T>C	ENSP00000367997.3:p.Ser26=
ENST00000469142.1:n.301T>C
ENST00000474231.5:c.1902T>C	ENSP00000417123.1:p.Ser634=
ENST00000541735.5:c.1902T>C	ENSP00000444119.1:p.Ser634=
ENST00000619831.4:c.9267T>C	ENSP00000479270.1:p.Ser3089=
ENST00000620040.4:c.9279T>C	ENSP00000478150.1:p.Ser3093=
NM_000109.3:c.9258T>C	NP_000100.2:p.Ser3086=
NM_004006.2:c.9282T>C , LRG_199t1:c.9282T>C	NP_003997.1:p.Ser3094=
NM_004009.3:c.9270T>C	NP_004000.1:p.Ser3090=
NM_004010.3:c.8913T>C	NP_004001.1:p.Ser2971=
NM_004011.3:c.5259T>C	NP_004002.2:p.Ser1753=
NM_004012.3:c.5250T>C	NP_004003.1:p.Ser1750=
NM_004013.2:c.1902T>C	NP_004004.1:p.Ser634=
NM_004014.2:c.1095T>C	NP_004005.1:p.Ser365=
NM_004015.2:c.78T>C	NP_004006.1:p.Ser26=
NM_004016.2:c.78T>C	NP_004007.1:p.Ser26=
NM_004017.2:c.78T>C	NP_004008.1:p.Ser26=
NM_004018.2:c.78T>C	NP_004009.1:p.Ser26=
NM_004019.2:c.78T>C	NP_004010.1:p.Ser26=
NM_004020.3:c.1902T>C	NP_004011.2:p.Ser634=
NM_004021.2:c.1902T>C	NP_004012.1:p.Ser634=
NM_004022.2:c.1902T>C	NP_004013.1:p.Ser634=
NM_004023.2:c.1902T>C	NP_004014.1:p.Ser634=
XM_006724468.2:c.9282T>C	XP_006724531.1:p.Ser3094=
XM_006724469.2:c.9258T>C	XP_006724532.1:p.Ser3086=
XM_006724470.2:c.9282T>C	XP_006724533.1:p.Ser3094=
XM_006724471.2:c.9282T>C	XP_006724534.1:p.Ser3094=
XM_006724472.2:c.9153T>C	XP_006724535.1:p.Ser3051=
XM_006724473.2:c.9144T>C	XP_006724536.1:p.Ser3048=
XM_006724474.2:c.9282T>C	XP_006724537.1:p.Ser3094=
XM_006724475.2:c.9282T>C	XP_006724538.1:p.Ser3094=
XM_011545467.1:c.9159T>C	XP_011543769.1:p.Ser3053=
XM_011545468.1:c.9282T>C	XP_011543770.1:p.Ser3094=
XM_006724469.3:c.9258T>C	XP_006724532.1:p.Ser3086=
XM_006724470.3:c.9282T>C	XP_006724533.1:p.Ser3094=
XM_006724474.3:c.9282T>C	XP_006724537.1:p.Ser3094=
XM_011545468.2:c.9282T>C	XP_011543770.1:p.Ser3094=
XM_017029328.1:c.9282T>C	XP_016884817.1:p.Ser3094=
XM_017029331.1:c.3456T>C	XP_016884820.1:p.Ser1152=
NM_000109.4:c.9258T>C	NP_000100.3:p.Ser3086=
NM_004006.3:c.9282T>C MANE Select	NP_003997.2:p.Ser3094=
NM_004011.4:c.5259T>C	NP_004002.3:p.Ser1753=
NM_004012.4:c.5250T>C	NP_004003.2:p.Ser1750=
NM_004015.3:c.78T>C	NP_004006.1:p.Ser26=
NM_004016.3:c.78T>C	NP_004007.1:p.Ser26=
NM_004017.3:c.78T>C	NP_004008.1:p.Ser26=
NM_004018.3:c.78T>C	NP_004009.1:p.Ser26=
NM_004019.3:c.78T>C	NP_004010.1:p.Ser26=
NM_004021.3:c.1902T>C	NP_004012.2:p.Ser634=
NM_004023.3:c.1902T>C	NP_004014.2:p.Ser634=
NM_004013.3:c.1902T>C	NP_004004.2:p.Ser634=
NM_004014.3:c.1095T>C	NP_004005.2:p.Ser365=
NM_004020.4:c.1902T>C	NP_004011.3:p.Ser634=
NM_004022.3:c.1902T>C	NP_004013.2:p.Ser634=