Canonical Allele Identifier: CA10378614

Gene: DMD

Linked Data

• ClinVar Variation Id: 1404120
• ClinVar RCV Id: RCV001901480
• dbSNP Id: rs376375532
• ExAC: X:32361255 A / G
• gnomAD v2: X-32361255-A-G
• MyVariant Identifiers: chrX:g.32361255A>G (hg19) ; chrX:g.32343138A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343138A>G , CM000685.2:g.32343138A>G	GRCh38
NC_000023.10:g.32361255A>G , CM000685.1:g.32361255A>G	GRCh37
NC_000023.9:g.32271176A>G	NCBI36
NG_012232.1:g.1001472T>C , LRG_199:g.1001472T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.581T>C	ENSP00000350765.3:p.Ile194Thr
ENST00000357033.9:c.5735T>C MANE Select	ENSP00000354923.3:p.Ile1912Thr
ENST00000619831.5:c.1703T>C	ENSP00000479270.2:p.Ile568Thr
ENST00000357033.8:c.5735T>C	ENSP00000354923.3:p.Ile1912Thr
ENST00000378677.6:c.5723T>C	ENSP00000367948.2:p.Ile1908Thr
ENST00000488902.5:n.336-126075T>C
ENST00000493412.1:c.392T>C	ENSP00000417725.1:p.Ile131Thr
ENST00000619831.4:c.5723T>C	ENSP00000479270.1:p.Ile1908Thr
ENST00000620040.4:c.5735T>C	ENSP00000478150.1:p.Ile1912Thr
NM_000109.3:c.5711T>C	NP_000100.2:p.Ile1904Thr
NM_004006.2:c.5735T>C , LRG_199t1:c.5735T>C	NP_003997.1:p.Ile1912Thr
NM_004009.3:c.5723T>C	NP_004000.1:p.Ile1908Thr
NM_004010.3:c.5366T>C	NP_004001.1:p.Ile1789Thr
NM_004011.3:c.1712T>C	NP_004002.2:p.Ile571Thr
NM_004012.3:c.1703T>C	NP_004003.1:p.Ile568Thr
XM_006724468.2:c.5735T>C	XP_006724531.1:p.Ile1912Thr
XM_006724469.2:c.5711T>C	XP_006724532.1:p.Ile1904Thr
XM_006724470.2:c.5735T>C	XP_006724533.1:p.Ile1912Thr
XM_006724471.2:c.5735T>C	XP_006724534.1:p.Ile1912Thr
XM_006724472.2:c.5606T>C	XP_006724535.1:p.Ile1869Thr
XM_006724473.2:c.5597T>C	XP_006724536.1:p.Ile1866Thr
XM_006724474.2:c.5735T>C	XP_006724537.1:p.Ile1912Thr
XM_006724475.2:c.5735T>C	XP_006724538.1:p.Ile1912Thr
XM_011545467.1:c.5612T>C	XP_011543769.1:p.Ile1871Thr
XM_011545468.1:c.5735T>C	XP_011543770.1:p.Ile1912Thr
XM_011545469.1:c.5735T>C	XP_011543771.1:p.Ile1912Thr
XM_006724469.3:c.5711T>C	XP_006724532.1:p.Ile1904Thr
XM_006724470.3:c.5735T>C	XP_006724533.1:p.Ile1912Thr
XM_006724474.3:c.5735T>C	XP_006724537.1:p.Ile1912Thr
XM_011545468.2:c.5735T>C	XP_011543770.1:p.Ile1912Thr
XM_017029328.1:c.5735T>C	XP_016884817.1:p.Ile1912Thr
XM_017029329.1:c.5735T>C	XP_016884818.1:p.Ile1912Thr
XM_017029330.2:c.5735T>C	XP_016884819.1:p.Ile1912Thr
NM_000109.4:c.5711T>C	NP_000100.3:p.Ile1904Thr
NM_004006.3:c.5735T>C MANE Select	NP_003997.2:p.Ile1912Thr
NM_004011.4:c.1712T>C	NP_004002.3:p.Ile571Thr
NM_004012.4:c.1703T>C	NP_004003.2:p.Ile568Thr