Canonical Allele Identifier: CA10378623

Gene: DMD

Linked Data

• ClinVar Variation Id: 1003542
• ClinVar RCV Id: RCV001300104 ; RCV001830169
• dbSNP Id: rs376202643
• ExAC: X:32361306 T / A
• gnomAD v2: X-32361306-T-A
• gnomAD v3: X-32343189-T-A
• gnomAD v4: X-32343189-T-A
• MyVariant Identifiers: chrX:g.32361306T>A (hg19) ; chrX:g.32343189T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343189T>A , CM000685.2:g.32343189T>A	GRCh38
NC_000023.10:g.32361306T>A , CM000685.1:g.32361306T>A	GRCh37
NC_000023.9:g.32271227T>A	NCBI36
NG_012232.1:g.1001421A>T , LRG_199:g.1001421A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.530A>T	ENSP00000350765.3:p.Asp177Val
ENST00000357033.9:c.5684A>T MANE Select	ENSP00000354923.3:p.Asp1895Val
ENST00000619831.5:c.1652A>T	ENSP00000479270.2:p.Asp551Val
ENST00000357033.8:c.5684A>T	ENSP00000354923.3:p.Asp1895Val
ENST00000378677.6:c.5672A>T	ENSP00000367948.2:p.Asp1891Val
ENST00000488902.5:n.336-126126A>T
ENST00000493412.1:c.341A>T	ENSP00000417725.1:p.Asp114Val
ENST00000619831.4:c.5672A>T	ENSP00000479270.1:p.Asp1891Val
ENST00000620040.4:c.5684A>T	ENSP00000478150.1:p.Asp1895Val
NM_000109.3:c.5660A>T	NP_000100.2:p.Asp1887Val
NM_004006.2:c.5684A>T , LRG_199t1:c.5684A>T	NP_003997.1:p.Asp1895Val
NM_004009.3:c.5672A>T	NP_004000.1:p.Asp1891Val
NM_004010.3:c.5315A>T	NP_004001.1:p.Asp1772Val
NM_004011.3:c.1661A>T	NP_004002.2:p.Asp554Val
NM_004012.3:c.1652A>T	NP_004003.1:p.Asp551Val
XM_006724468.2:c.5684A>T	XP_006724531.1:p.Asp1895Val
XM_006724469.2:c.5660A>T	XP_006724532.1:p.Asp1887Val
XM_006724470.2:c.5684A>T	XP_006724533.1:p.Asp1895Val
XM_006724471.2:c.5684A>T	XP_006724534.1:p.Asp1895Val
XM_006724472.2:c.5555A>T	XP_006724535.1:p.Asp1852Val
XM_006724473.2:c.5546A>T	XP_006724536.1:p.Asp1849Val
XM_006724474.2:c.5684A>T	XP_006724537.1:p.Asp1895Val
XM_006724475.2:c.5684A>T	XP_006724538.1:p.Asp1895Val
XM_011545467.1:c.5561A>T	XP_011543769.1:p.Asp1854Val
XM_011545468.1:c.5684A>T	XP_011543770.1:p.Asp1895Val
XM_011545469.1:c.5684A>T	XP_011543771.1:p.Asp1895Val
XM_006724469.3:c.5660A>T	XP_006724532.1:p.Asp1887Val
XM_006724470.3:c.5684A>T	XP_006724533.1:p.Asp1895Val
XM_006724474.3:c.5684A>T	XP_006724537.1:p.Asp1895Val
XM_011545468.2:c.5684A>T	XP_011543770.1:p.Asp1895Val
XM_017029328.1:c.5684A>T	XP_016884817.1:p.Asp1895Val
XM_017029329.1:c.5684A>T	XP_016884818.1:p.Asp1895Val
XM_017029330.2:c.5684A>T	XP_016884819.1:p.Asp1895Val
NM_000109.4:c.5660A>T	NP_000100.3:p.Asp1887Val
NM_004006.3:c.5684A>T MANE Select	NP_003997.2:p.Asp1895Val
NM_004011.4:c.1661A>T	NP_004002.3:p.Asp554Val
NM_004012.4:c.1652A>T	NP_004003.2:p.Asp551Val