Canonical Allele Identifier: CA327983707

Gene: DMD

Linked Data

• ClinVar Variation Id: 2037100
• ClinVar RCV Id: RCV002882123
• dbSNP Id: rs759375976
• gnomAD v2: X-32364081-C-A
• gnomAD v3: X-32345964-C-A
• gnomAD v4: X-32345964-C-A
• MyVariant Identifiers: chrX:g.32364081C>A (hg19) ; chrX:g.32345964C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32345964C>A , CM000685.2:g.32345964C>A	GRCh38
NC_000023.10:g.32364081C>A , CM000685.1:g.32364081C>A	GRCh37
NC_000023.9:g.32274002C>A	NCBI36
NG_012232.1:g.998646G>T , LRG_199:g.998646G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.411G>T	ENSP00000350765.3:p.Gln137His
ENST00000357033.9:c.5565G>T MANE Select	ENSP00000354923.3:p.Gln1855His
ENST00000619831.5:c.1533G>T	ENSP00000479270.2:p.Gln511His
ENST00000357033.8:c.5565G>T	ENSP00000354923.3:p.Gln1855His
ENST00000378677.6:c.5553G>T	ENSP00000367948.2:p.Gln1851His
ENST00000488902.5:n.336-128901G>T
ENST00000493412.1:c.222G>T	ENSP00000417725.1:p.Gln74His
ENST00000619831.4:c.5553G>T	ENSP00000479270.1:p.Gln1851His
ENST00000620040.4:c.5565G>T	ENSP00000478150.1:p.Gln1855His
NM_000109.3:c.5541G>T	NP_000100.2:p.Gln1847His
NM_004006.2:c.5565G>T , LRG_199t1:c.5565G>T	NP_003997.1:p.Gln1855His
NM_004009.3:c.5553G>T	NP_004000.1:p.Gln1851His
NM_004010.3:c.5196G>T	NP_004001.1:p.Gln1732His
NM_004011.3:c.1542G>T	NP_004002.2:p.Gln514His
NM_004012.3:c.1533G>T	NP_004003.1:p.Gln511His
XM_006724468.2:c.5565G>T	XP_006724531.1:p.Gln1855His
XM_006724469.2:c.5541G>T	XP_006724532.1:p.Gln1847His
XM_006724470.2:c.5565G>T	XP_006724533.1:p.Gln1855His
XM_006724471.2:c.5565G>T	XP_006724534.1:p.Gln1855His
XM_006724472.2:c.5436G>T	XP_006724535.1:p.Gln1812His
XM_006724473.2:c.5448+2442G>T	XP_006724536.1:n.5448+2442G>T
XM_006724474.2:c.5565G>T	XP_006724537.1:p.Gln1855His
XM_006724475.2:c.5565G>T	XP_006724538.1:p.Gln1855His
XM_011545467.1:c.5442G>T	XP_011543769.1:p.Gln1814His
XM_011545468.1:c.5565G>T	XP_011543770.1:p.Gln1855His
XM_011545469.1:c.5565G>T	XP_011543771.1:p.Gln1855His
XM_006724469.3:c.5541G>T	XP_006724532.1:p.Gln1847His
XM_006724470.3:c.5565G>T	XP_006724533.1:p.Gln1855His
XM_006724474.3:c.5565G>T	XP_006724537.1:p.Gln1855His
XM_011545468.2:c.5565G>T	XP_011543770.1:p.Gln1855His
XM_017029328.1:c.5565G>T	XP_016884817.1:p.Gln1855His
XM_017029329.1:c.5565G>T	XP_016884818.1:p.Gln1855His
XM_017029330.2:c.5565G>T	XP_016884819.1:p.Gln1855His
NM_000109.4:c.5541G>T	NP_000100.3:p.Gln1847His
NM_004006.3:c.5565G>T MANE Select	NP_003997.2:p.Gln1855His
NM_004011.4:c.1542G>T	NP_004002.3:p.Gln514His
NM_004012.4:c.1533G>T	NP_004003.2:p.Gln511His