Canonical Allele Identifier: CA10378655

Gene: DMD

Linked Data

• ClinVar Variation Id: 1648491
• ClinVar RCV Id: RCV002141227
• dbSNP Id: rs377151540
• ExAC: X:32364084 T / C
• gnomAD v2: X-32364084-T-C
• gnomAD v3: X-32345967-T-C
• gnomAD v4: X-32345967-T-C
• MyVariant Identifiers: chrX:g.32364084T>C (hg19) ; chrX:g.32345967T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32345967T>C , CM000685.2:g.32345967T>C	GRCh38
NC_000023.10:g.32364084T>C , CM000685.1:g.32364084T>C	GRCh37
NC_000023.9:g.32274005T>C	NCBI36
NG_012232.1:g.998643A>G , LRG_199:g.998643A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.408A>G	ENSP00000350765.3:p.Leu136=
ENST00000357033.9:c.5562A>G MANE Select	ENSP00000354923.3:p.Leu1854=
ENST00000619831.5:c.1530A>G	ENSP00000479270.2:p.Leu510=
ENST00000357033.8:c.5562A>G	ENSP00000354923.3:p.Leu1854=
ENST00000378677.6:c.5550A>G	ENSP00000367948.2:p.Leu1850=
ENST00000488902.5:n.336-128904A>G
ENST00000493412.1:c.219A>G	ENSP00000417725.1:p.Leu73=
ENST00000619831.4:c.5550A>G	ENSP00000479270.1:p.Leu1850=
ENST00000620040.4:c.5562A>G	ENSP00000478150.1:p.Leu1854=
NM_000109.3:c.5538A>G	NP_000100.2:p.Leu1846=
NM_004006.2:c.5562A>G , LRG_199t1:c.5562A>G	NP_003997.1:p.Leu1854=
NM_004009.3:c.5550A>G	NP_004000.1:p.Leu1850=
NM_004010.3:c.5193A>G	NP_004001.1:p.Leu1731=
NM_004011.3:c.1539A>G	NP_004002.2:p.Leu513=
NM_004012.3:c.1530A>G	NP_004003.1:p.Leu510=
XM_006724468.2:c.5562A>G	XP_006724531.1:p.Leu1854=
XM_006724469.2:c.5538A>G	XP_006724532.1:p.Leu1846=
XM_006724470.2:c.5562A>G	XP_006724533.1:p.Leu1854=
XM_006724471.2:c.5562A>G	XP_006724534.1:p.Leu1854=
XM_006724472.2:c.5433A>G	XP_006724535.1:p.Leu1811=
XM_006724473.2:c.5448+2439A>G	XP_006724536.1:n.5448+2439A>G
XM_006724474.2:c.5562A>G	XP_006724537.1:p.Leu1854=
XM_006724475.2:c.5562A>G	XP_006724538.1:p.Leu1854=
XM_011545467.1:c.5439A>G	XP_011543769.1:p.Leu1813=
XM_011545468.1:c.5562A>G	XP_011543770.1:p.Leu1854=
XM_011545469.1:c.5562A>G	XP_011543771.1:p.Leu1854=
XM_006724469.3:c.5538A>G	XP_006724532.1:p.Leu1846=
XM_006724470.3:c.5562A>G	XP_006724533.1:p.Leu1854=
XM_006724474.3:c.5562A>G	XP_006724537.1:p.Leu1854=
XM_011545468.2:c.5562A>G	XP_011543770.1:p.Leu1854=
XM_017029328.1:c.5562A>G	XP_016884817.1:p.Leu1854=
XM_017029329.1:c.5562A>G	XP_016884818.1:p.Leu1854=
XM_017029330.2:c.5562A>G	XP_016884819.1:p.Leu1854=
NM_000109.4:c.5538A>G	NP_000100.3:p.Leu1846=
NM_004006.3:c.5562A>G MANE Select	NP_003997.2:p.Leu1854=
NM_004011.4:c.1539A>G	NP_004002.3:p.Leu513=
NM_004012.4:c.1530A>G	NP_004003.2:p.Leu510=