Canonical Allele Identifier: CA412665563

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.32361260C>G (hg19) ; chrX:g.32343143C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343143C>G , CM000685.2:g.32343143C>G	GRCh38
NC_000023.10:g.32361260C>G , CM000685.1:g.32361260C>G	GRCh37
NC_000023.9:g.32271181C>G	NCBI36
NG_012232.1:g.1001467G>C , LRG_199:g.1001467G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.576G>C	ENSP00000350765.3:p.Arg192Ser
ENST00000357033.9:c.5730G>C MANE Select	ENSP00000354923.3:p.Arg1910Ser
ENST00000619831.5:c.1698G>C	ENSP00000479270.2:p.Arg566Ser
ENST00000357033.8:c.5730G>C	ENSP00000354923.3:p.Arg1910Ser
ENST00000378677.6:c.5718G>C	ENSP00000367948.2:p.Arg1906Ser
ENST00000488902.5:n.336-126080G>C
ENST00000493412.1:c.387G>C	ENSP00000417725.1:p.Arg129Ser
ENST00000619831.4:c.5718G>C	ENSP00000479270.1:p.Arg1906Ser
ENST00000620040.4:c.5730G>C	ENSP00000478150.1:p.Arg1910Ser
NM_000109.3:c.5706G>C	NP_000100.2:p.Arg1902Ser
NM_004006.2:c.5730G>C , LRG_199t1:c.5730G>C	NP_003997.1:p.Arg1910Ser
NM_004009.3:c.5718G>C	NP_004000.1:p.Arg1906Ser
NM_004010.3:c.5361G>C	NP_004001.1:p.Arg1787Ser
NM_004011.3:c.1707G>C	NP_004002.2:p.Arg569Ser
NM_004012.3:c.1698G>C	NP_004003.1:p.Arg566Ser
XM_006724468.2:c.5730G>C	XP_006724531.1:p.Arg1910Ser
XM_006724469.2:c.5706G>C	XP_006724532.1:p.Arg1902Ser
XM_006724470.2:c.5730G>C	XP_006724533.1:p.Arg1910Ser
XM_006724471.2:c.5730G>C	XP_006724534.1:p.Arg1910Ser
XM_006724472.2:c.5601G>C	XP_006724535.1:p.Arg1867Ser
XM_006724473.2:c.5592G>C	XP_006724536.1:p.Arg1864Ser
XM_006724474.2:c.5730G>C	XP_006724537.1:p.Arg1910Ser
XM_006724475.2:c.5730G>C	XP_006724538.1:p.Arg1910Ser
XM_011545467.1:c.5607G>C	XP_011543769.1:p.Arg1869Ser
XM_011545468.1:c.5730G>C	XP_011543770.1:p.Arg1910Ser
XM_011545469.1:c.5730G>C	XP_011543771.1:p.Arg1910Ser
XM_006724469.3:c.5706G>C	XP_006724532.1:p.Arg1902Ser
XM_006724470.3:c.5730G>C	XP_006724533.1:p.Arg1910Ser
XM_006724474.3:c.5730G>C	XP_006724537.1:p.Arg1910Ser
XM_011545468.2:c.5730G>C	XP_011543770.1:p.Arg1910Ser
XM_017029328.1:c.5730G>C	XP_016884817.1:p.Arg1910Ser
XM_017029329.1:c.5730G>C	XP_016884818.1:p.Arg1910Ser
XM_017029330.2:c.5730G>C	XP_016884819.1:p.Arg1910Ser
NM_000109.4:c.5706G>C	NP_000100.3:p.Arg1902Ser
NM_004006.3:c.5730G>C MANE Select	NP_003997.2:p.Arg1910Ser
NM_004011.4:c.1707G>C	NP_004002.3:p.Arg569Ser
NM_004012.4:c.1698G>C	NP_004003.2:p.Arg566Ser