Canonical Allele Identifier: CA10378362

Gene: DMD

Linked Data

• ClinVar Variation Id: 2167242
• ClinVar RCV Id: RCV003086344 ; RCV003161809
• dbSNP Id: rs754896795
• ExAC: X:31893421 T / C
• gnomAD v2: X-31893421-T-C
• gnomAD v3: X-31875304-T-C
• gnomAD v4: X-31875304-T-C
• MyVariant Identifiers: chrX:g.31893421T>C (hg19) ; chrX:g.31875304T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31875304T>C , CM000685.2:g.31875304T>C	GRCh38
NC_000023.10:g.31893421T>C , CM000685.1:g.31893421T>C	GRCh37
NC_000023.9:g.31803342T>C	NCBI36
NG_012232.1:g.1469306A>G , LRG_199:g.1469306A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.1828A>G	ENSP00000350765.3:p.Lys610Glu
ENST00000682238.1:c.-399A>G	ENSP00000508124.1:n.-399A>G
ENST00000683117.1:n.643A>G
ENST00000683450.1:n.565A>G
ENST00000683851.1:n.643A>G
ENST00000683957.1:n.474A>G
ENST00000684130.1:c.-399A>G	ENSP00000508037.1:n.-399A>G
ENST00000357033.9:c.6982A>G MANE Select	ENSP00000354923.3:p.Lys2328Glu
ENST00000619831.5:c.2950A>G	ENSP00000479270.2:p.Lys984Glu
ENST00000620040.5:c.-399A>G	ENSP00000478150.2:n.-399A>G
ENST00000680961.1:c.-399A>G	ENSP00000506386.1:n.-399A>G
ENST00000681646.1:n.643A>G
ENST00000357033.8:c.6982A>G	ENSP00000354923.3:p.Lys2328Glu
ENST00000358062.6:c.70A>G	ENSP00000350765.2:p.Lys24Glu
ENST00000359836.5:c.-399A>G	ENSP00000352894.1:n.-399A>G
ENST00000378677.6:c.6970A>G	ENSP00000367948.2:p.Lys2324Glu
ENST00000378707.7:c.-399A>G	ENSP00000367979.3:n.-399A>G
ENST00000474231.5:c.-399A>G	ENSP00000417123.1:n.-399A>G
ENST00000541735.5:c.-399A>G	ENSP00000444119.1:n.-399A>G
ENST00000619831.4:c.6967A>G	ENSP00000479270.1:p.Lys2323Glu
ENST00000620040.4:c.6979A>G	ENSP00000478150.1:p.Lys2327Glu
NM_000109.3:c.6958A>G	NP_000100.2:p.Lys2320Glu
NM_004006.2:c.6982A>G , LRG_199t1:c.6982A>G	NP_003997.1:p.Lys2328Glu
NM_004009.3:c.6970A>G	NP_004000.1:p.Lys2324Glu
NM_004010.3:c.6613A>G	NP_004001.1:p.Lys2205Glu
NM_004011.3:c.2959A>G	NP_004002.2:p.Lys987Glu
NM_004012.3:c.2950A>G	NP_004003.1:p.Lys984Glu
NM_004013.2:c.-399A>G	NP_004004.1:n.-399A>G
NM_004020.3:c.-399A>G	NP_004011.2:n.-399A>G
NM_004021.2:c.-399A>G	NP_004012.1:n.-399A>G
NM_004022.2:c.-399A>G	NP_004013.1:n.-399A>G
NM_004023.2:c.-399A>G	NP_004014.1:n.-399A>G
XM_006724468.2:c.6982A>G	XP_006724531.1:p.Lys2328Glu
XM_006724469.2:c.6958A>G	XP_006724532.1:p.Lys2320Glu
XM_006724470.2:c.6982A>G	XP_006724533.1:p.Lys2328Glu
XM_006724471.2:c.6982A>G	XP_006724534.1:p.Lys2328Glu
XM_006724472.2:c.6853A>G	XP_006724535.1:p.Lys2285Glu
XM_006724473.2:c.6844A>G	XP_006724536.1:p.Lys2282Glu
XM_006724474.2:c.6982A>G	XP_006724537.1:p.Lys2328Glu
XM_006724475.2:c.6982A>G	XP_006724538.1:p.Lys2328Glu
XM_011545467.1:c.6859A>G	XP_011543769.1:p.Lys2287Glu
XM_011545468.1:c.6982A>G	XP_011543770.1:p.Lys2328Glu
XM_006724469.3:c.6958A>G	XP_006724532.1:p.Lys2320Glu
XM_006724470.3:c.6982A>G	XP_006724533.1:p.Lys2328Glu
XM_006724474.3:c.6982A>G	XP_006724537.1:p.Lys2328Glu
XM_011545468.2:c.6982A>G	XP_011543770.1:p.Lys2328Glu
XM_017029328.1:c.6982A>G	XP_016884817.1:p.Lys2328Glu
XM_017029331.1:c.1156A>G	XP_016884820.1:p.Lys386Glu
NM_000109.4:c.6958A>G	NP_000100.3:p.Lys2320Glu
NM_004006.3:c.6982A>G MANE Select	NP_003997.2:p.Lys2328Glu
NM_004011.4:c.2959A>G	NP_004002.3:p.Lys987Glu
NM_004012.4:c.2950A>G	NP_004003.2:p.Lys984Glu
NM_004021.3:c.-399A>G	NP_004012.2:n.-399A>G
NM_004023.3:c.-399A>G	NP_004014.2:n.-399A>G
NM_004013.3:c.-399A>G	NP_004004.2:n.-399A>G
NM_004020.4:c.-399A>G	NP_004011.3:n.-399A>G
NM_004022.3:c.-399A>G	NP_004013.2:n.-399A>G