Canonical Allele Identifier: CA412671872

Gene: DMD

Linked Data

• ClinVar Variation Id: 1384267
• ClinVar RCV Id: RCV001895865 ; RCV002490117
• dbSNP Id: rs2147259228
• gnomAD v4: X-32365058-C-T
• MyVariant Identifiers: chrX:g.32383175C>T (hg19) ; chrX:g.32365058C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365058C>T , CM000685.2:g.32365058C>T	GRCh38
NC_000023.10:g.32383175C>T , CM000685.1:g.32383175C>T	GRCh37
NC_000023.9:g.32293096C>T	NCBI36
NG_012232.1:g.979552G>A , LRG_199:g.979552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4987G>A MANE Select	ENSP00000354923.3:p.Val1663Ile
ENST00000619831.5:c.955G>A	ENSP00000479270.2:p.Val319Ile
ENST00000357033.8:c.4987G>A	ENSP00000354923.3:p.Val1663Ile
ENST00000378677.6:c.4975G>A	ENSP00000367948.2:p.Val1659Ile
ENST00000420596.5:c.235G>A	ENSP00000399897.1:p.Val79Ile
ENST00000448370.5:c.94-348G>A	ENSP00000388559.1:n.94-348G>A
ENST00000488902.5:n.336-147995G>A
ENST00000619831.4:c.4975G>A	ENSP00000479270.1:p.Val1659Ile
ENST00000620040.4:c.4987G>A	ENSP00000478150.1:p.Val1663Ile
NM_000109.3:c.4963G>A	NP_000100.2:p.Val1655Ile
NM_004006.2:c.4987G>A , LRG_199t1:c.4987G>A	NP_003997.1:p.Val1663Ile
NM_004009.3:c.4975G>A	NP_004000.1:p.Val1659Ile
NM_004010.3:c.4618G>A	NP_004001.1:p.Val1540Ile
NM_004011.3:c.964G>A	NP_004002.2:p.Val322Ile
NM_004012.3:c.955G>A	NP_004003.1:p.Val319Ile
XM_006724468.2:c.4987G>A	XP_006724531.1:p.Val1663Ile
XM_006724469.2:c.4963G>A	XP_006724532.1:p.Val1655Ile
XM_006724470.2:c.4987G>A	XP_006724533.1:p.Val1663Ile
XM_006724471.2:c.4987G>A	XP_006724534.1:p.Val1663Ile
XM_006724472.2:c.4858G>A	XP_006724535.1:p.Val1620Ile
XM_006724473.2:c.4987G>A	XP_006724536.1:p.Val1663Ile
XM_006724474.2:c.4987G>A	XP_006724537.1:p.Val1663Ile
XM_006724475.2:c.4987G>A	XP_006724538.1:p.Val1663Ile
XM_011545467.1:c.4987G>A	XP_011543769.1:p.Val1663Ile
XM_011545468.1:c.4987G>A	XP_011543770.1:p.Val1663Ile
XM_011545469.1:c.4987G>A	XP_011543771.1:p.Val1663Ile
XM_006724469.3:c.4963G>A	XP_006724532.1:p.Val1655Ile
XM_006724470.3:c.4987G>A	XP_006724533.1:p.Val1663Ile
XM_006724474.3:c.4987G>A	XP_006724537.1:p.Val1663Ile
XM_011545468.2:c.4987G>A	XP_011543770.1:p.Val1663Ile
XM_017029328.1:c.4987G>A	XP_016884817.1:p.Val1663Ile
XM_017029329.1:c.4987G>A	XP_016884818.1:p.Val1663Ile
XM_017029330.2:c.4987G>A	XP_016884819.1:p.Val1663Ile
NM_000109.4:c.4963G>A	NP_000100.3:p.Val1655Ile
NM_004006.3:c.4987G>A MANE Select	NP_003997.2:p.Val1663Ile
NM_004011.4:c.964G>A	NP_004002.3:p.Val322Ile
NM_004012.4:c.955G>A	NP_004003.2:p.Val319Ile