Canonical Allele Identifier: CA347488

Gene: DMD

Linked Data

• ClinVar Variation Id: 217202
• ClinVar RCV Id: RCV000201039 ; RCV000506941 ; RCV003317147
• dbSNP Id: rs777864641
• MyVariant Identifiers: chrX:g.32366621C>A (hg19) ; chrX:g.32348504C>A (hg38)
• PubMed: PMID:18652600 ; PMID:20485447

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32348504C>A , CM000685.2:g.32348504C>A	GRCh38
NC_000023.10:g.32366621C>A , CM000685.1:g.32366621C>A	GRCh37
NC_000023.9:g.32276542C>A	NCBI36
NG_012232.1:g.996106G>T , LRG_199:g.996106G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.196G>T	ENSP00000350765.3:p.Glu66Ter
ENST00000357033.9:c.5350G>T MANE Select	ENSP00000354923.3:p.Glu1784Ter
ENST00000619831.5:c.1318G>T	ENSP00000479270.2:p.Glu440Ter
ENST00000357033.8:c.5350G>T	ENSP00000354923.3:p.Glu1784Ter
ENST00000378677.6:c.5338G>T	ENSP00000367948.2:p.Glu1780Ter
ENST00000488902.5:n.336-131441G>T
ENST00000493412.1:c.7G>T	ENSP00000417725.1:p.Glu3Ter
ENST00000619831.4:c.5338G>T	ENSP00000479270.1:p.Glu1780Ter
ENST00000620040.4:c.5350G>T	ENSP00000478150.1:p.Glu1784Ter
NM_000109.3:c.5326G>T	NP_000100.2:p.Glu1776Ter
NM_004006.2:c.5350G>T , LRG_199t1:c.5350G>T	NP_003997.1:p.Glu1784Ter
NM_004009.3:c.5338G>T	NP_004000.1:p.Glu1780Ter
NM_004010.3:c.4981G>T	NP_004001.1:p.Glu1661Ter
NM_004011.3:c.1327G>T	NP_004002.2:p.Glu443Ter
NM_004012.3:c.1318G>T	NP_004003.1:p.Glu440Ter
XM_006724468.2:c.5350G>T	XP_006724531.1:p.Glu1784Ter
XM_006724469.2:c.5326G>T	XP_006724532.1:p.Glu1776Ter
XM_006724470.2:c.5350G>T	XP_006724533.1:p.Glu1784Ter
XM_006724471.2:c.5350G>T	XP_006724534.1:p.Glu1784Ter
XM_006724472.2:c.5221G>T	XP_006724535.1:p.Glu1741Ter
XM_006724473.2:c.5350G>T	XP_006724536.1:p.Glu1784Ter
XM_006724474.2:c.5350G>T	XP_006724537.1:p.Glu1784Ter
XM_006724475.2:c.5350G>T	XP_006724538.1:p.Glu1784Ter
XM_011545467.1:c.5326-2424G>T	XP_011543769.1:n.5326-2424G>T
XM_011545468.1:c.5350G>T	XP_011543770.1:p.Glu1784Ter
XM_011545469.1:c.5350G>T	XP_011543771.1:p.Glu1784Ter
XM_006724469.3:c.5326G>T	XP_006724532.1:p.Glu1776Ter
XM_006724470.3:c.5350G>T	XP_006724533.1:p.Glu1784Ter
XM_006724474.3:c.5350G>T	XP_006724537.1:p.Glu1784Ter
XM_011545468.2:c.5350G>T	XP_011543770.1:p.Glu1784Ter
XM_017029328.1:c.5350G>T	XP_016884817.1:p.Glu1784Ter
XM_017029329.1:c.5350G>T	XP_016884818.1:p.Glu1784Ter
XM_017029330.2:c.5350G>T	XP_016884819.1:p.Glu1784Ter
NM_000109.4:c.5326G>T	NP_000100.3:p.Glu1776Ter
NM_004006.3:c.5350G>T MANE Select	NP_003997.2:p.Glu1784Ter
NM_004011.4:c.1327G>T	NP_004002.3:p.Glu443Ter
NM_004012.4:c.1318G>T	NP_004003.2:p.Glu440Ter