Canonical Allele Identifier: CA412666164

Gene: DMD

Linked Data

• ClinVar Variation Id: 803859
• ClinVar RCV Id: RCV000990644 ; RCV001263658
• dbSNP Id: rs1603631244
• MyVariant Identifiers: chrX:g.32361354C>T (hg19) ; chrX:g.32343237C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343237C>T , CM000685.2:g.32343237C>T	GRCh38
NC_000023.10:g.32361354C>T , CM000685.1:g.32361354C>T	GRCh37
NC_000023.9:g.32271275C>T	NCBI36
NG_012232.1:g.1001373G>A , LRG_199:g.1001373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.482G>A	ENSP00000350765.3:p.Trp161Ter
ENST00000357033.9:c.5636G>A MANE Select	ENSP00000354923.3:p.Trp1879Ter
ENST00000619831.5:c.1604G>A	ENSP00000479270.2:p.Trp535Ter
ENST00000357033.8:c.5636G>A	ENSP00000354923.3:p.Trp1879Ter
ENST00000378677.6:c.5624G>A	ENSP00000367948.2:p.Trp1875Ter
ENST00000488902.5:n.336-126174G>A
ENST00000493412.1:c.293G>A	ENSP00000417725.1:p.Trp98Ter
ENST00000619831.4:c.5624G>A	ENSP00000479270.1:p.Trp1875Ter
ENST00000620040.4:c.5636G>A	ENSP00000478150.1:p.Trp1879Ter
NM_000109.3:c.5612G>A	NP_000100.2:p.Trp1871Ter
NM_004006.2:c.5636G>A , LRG_199t1:c.5636G>A	NP_003997.1:p.Trp1879Ter
NM_004009.3:c.5624G>A	NP_004000.1:p.Trp1875Ter
NM_004010.3:c.5267G>A	NP_004001.1:p.Trp1756Ter
NM_004011.3:c.1613G>A	NP_004002.2:p.Trp538Ter
NM_004012.3:c.1604G>A	NP_004003.1:p.Trp535Ter
XM_006724468.2:c.5636G>A	XP_006724531.1:p.Trp1879Ter
XM_006724469.2:c.5612G>A	XP_006724532.1:p.Trp1871Ter
XM_006724470.2:c.5636G>A	XP_006724533.1:p.Trp1879Ter
XM_006724471.2:c.5636G>A	XP_006724534.1:p.Trp1879Ter
XM_006724472.2:c.5507G>A	XP_006724535.1:p.Trp1836Ter
XM_006724473.2:c.5498G>A	XP_006724536.1:p.Trp1833Ter
XM_006724474.2:c.5636G>A	XP_006724537.1:p.Trp1879Ter
XM_006724475.2:c.5636G>A	XP_006724538.1:p.Trp1879Ter
XM_011545467.1:c.5513G>A	XP_011543769.1:p.Trp1838Ter
XM_011545468.1:c.5636G>A	XP_011543770.1:p.Trp1879Ter
XM_011545469.1:c.5636G>A	XP_011543771.1:p.Trp1879Ter
XM_006724469.3:c.5612G>A	XP_006724532.1:p.Trp1871Ter
XM_006724470.3:c.5636G>A	XP_006724533.1:p.Trp1879Ter
XM_006724474.3:c.5636G>A	XP_006724537.1:p.Trp1879Ter
XM_011545468.2:c.5636G>A	XP_011543770.1:p.Trp1879Ter
XM_017029328.1:c.5636G>A	XP_016884817.1:p.Trp1879Ter
XM_017029329.1:c.5636G>A	XP_016884818.1:p.Trp1879Ter
XM_017029330.2:c.5636G>A	XP_016884819.1:p.Trp1879Ter
NM_000109.4:c.5612G>A	NP_000100.3:p.Trp1871Ter
NM_004006.3:c.5636G>A MANE Select	NP_003997.2:p.Trp1879Ter
NM_004011.4:c.1613G>A	NP_004002.3:p.Trp538Ter
NM_004012.4:c.1604G>A	NP_004003.2:p.Trp535Ter