Canonical Allele Identifier: CA412666448

Gene: DMD

Linked Data

• ClinVar Variation Id: 1748575
• ClinVar RCV Id: RCV002344904
• dbSNP Id: rs1253896743
• gnomAD v2: X-32361390-T-A
• gnomAD v4: X-32343273-T-A
• MyVariant Identifiers: chrX:g.32361390T>A (hg19) ; chrX:g.32343273T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343273T>A , CM000685.2:g.32343273T>A	GRCh38
NC_000023.10:g.32361390T>A , CM000685.1:g.32361390T>A	GRCh37
NC_000023.9:g.32271311T>A	NCBI36
NG_012232.1:g.1001337A>T , LRG_199:g.1001337A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.446A>T	ENSP00000350765.3:p.Gln149Leu
ENST00000357033.9:c.5600A>T MANE Select	ENSP00000354923.3:p.Gln1867Leu
ENST00000619831.5:c.1568A>T	ENSP00000479270.2:p.Gln523Leu
ENST00000357033.8:c.5600A>T	ENSP00000354923.3:p.Gln1867Leu
ENST00000378677.6:c.5588A>T	ENSP00000367948.2:p.Gln1863Leu
ENST00000488902.5:n.336-126210A>T
ENST00000493412.1:c.257A>T	ENSP00000417725.1:p.Gln86Leu
ENST00000619831.4:c.5588A>T	ENSP00000479270.1:p.Gln1863Leu
ENST00000620040.4:c.5600A>T	ENSP00000478150.1:p.Gln1867Leu
NM_000109.3:c.5576A>T	NP_000100.2:p.Gln1859Leu
NM_004006.2:c.5600A>T , LRG_199t1:c.5600A>T	NP_003997.1:p.Gln1867Leu
NM_004009.3:c.5588A>T	NP_004000.1:p.Gln1863Leu
NM_004010.3:c.5231A>T	NP_004001.1:p.Gln1744Leu
NM_004011.3:c.1577A>T	NP_004002.2:p.Gln526Leu
NM_004012.3:c.1568A>T	NP_004003.1:p.Gln523Leu
XM_006724468.2:c.5600A>T	XP_006724531.1:p.Gln1867Leu
XM_006724469.2:c.5576A>T	XP_006724532.1:p.Gln1859Leu
XM_006724470.2:c.5600A>T	XP_006724533.1:p.Gln1867Leu
XM_006724471.2:c.5600A>T	XP_006724534.1:p.Gln1867Leu
XM_006724472.2:c.5471A>T	XP_006724535.1:p.Gln1824Leu
XM_006724473.2:c.5462A>T	XP_006724536.1:p.Gln1821Leu
XM_006724474.2:c.5600A>T	XP_006724537.1:p.Gln1867Leu
XM_006724475.2:c.5600A>T	XP_006724538.1:p.Gln1867Leu
XM_011545467.1:c.5477A>T	XP_011543769.1:p.Gln1826Leu
XM_011545468.1:c.5600A>T	XP_011543770.1:p.Gln1867Leu
XM_011545469.1:c.5600A>T	XP_011543771.1:p.Gln1867Leu
XM_006724469.3:c.5576A>T	XP_006724532.1:p.Gln1859Leu
XM_006724470.3:c.5600A>T	XP_006724533.1:p.Gln1867Leu
XM_006724474.3:c.5600A>T	XP_006724537.1:p.Gln1867Leu
XM_011545468.2:c.5600A>T	XP_011543770.1:p.Gln1867Leu
XM_017029328.1:c.5600A>T	XP_016884817.1:p.Gln1867Leu
XM_017029329.1:c.5600A>T	XP_016884818.1:p.Gln1867Leu
XM_017029330.2:c.5600A>T	XP_016884819.1:p.Gln1867Leu
NM_000109.4:c.5576A>T	NP_000100.3:p.Gln1859Leu
NM_004006.3:c.5600A>T MANE Select	NP_003997.2:p.Gln1867Leu
NM_004011.4:c.1577A>T	NP_004002.3:p.Gln526Leu
NM_004012.4:c.1568A>T	NP_004003.2:p.Gln523Leu