Canonical Allele Identifier: CA10378612

Gene: DMD

Linked Data

• ClinVar Variation Id: 1528796
• ClinVar RCV Id: RCV002086863
• dbSNP Id: rs1557290954
• ExAC: X:32361239 A / C
• gnomAD v2: X-32361239-A-C
• gnomAD v4: X-32343122-A-C
• MyVariant Identifiers: chrX:g.32361239A>C (hg19) ; chrX:g.32361239_32361242delinsCAAC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343122A>C , CM000685.2:g.32343122A>C	GRCh38
NC_000023.10:g.32361239A>C , CM000685.1:g.32361239A>C	GRCh37
NC_000023.9:g.32271160A>C	NCBI36
NG_012232.1:g.1001488T>G , LRG_199:g.1001488T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.585+12T>G	ENSP00000350765.3:n.585+12T>G
ENST00000357033.9:c.5739+12T>G MANE Select	ENSP00000354923.3:n.5739+12T>G
ENST00000619831.5:c.1707+12T>G	ENSP00000479270.2:n.1707+12T>G
ENST00000357033.8:c.5739+12T>G	ENSP00000354923.3:n.5739+12T>G
ENST00000378677.6:c.5727+12T>G	ENSP00000367948.2:n.5727+12T>G
ENST00000488902.5:n.336-126059T>G
ENST00000493412.1:c.396+12T>G	ENSP00000417725.1:n.396+12T>G
ENST00000619831.4:c.5727+12T>G	ENSP00000479270.1:n.5727+12T>G
ENST00000620040.4:c.5739+12T>G	ENSP00000478150.1:n.5739+12T>G
NM_000109.3:c.5715+12T>G	NP_000100.2:n.5715+12T>G
NM_004006.2:c.5739+12T>G , LRG_199t1:c.5739+12T>G	NP_003997.1:n.5739+12T>G
NM_004009.3:c.5727+12T>G	NP_004000.1:n.5727+12T>G
NM_004010.3:c.5370+12T>G	NP_004001.1:n.5370+12T>G
NM_004011.3:c.1716+12T>G	NP_004002.2:n.1716+12T>G
NM_004012.3:c.1707+12T>G	NP_004003.1:n.1707+12T>G
XM_006724468.2:c.5739+12T>G	XP_006724531.1:n.5739+12T>G
XM_006724469.2:c.5715+12T>G	XP_006724532.1:n.5715+12T>G
XM_006724470.2:c.5739+12T>G	XP_006724533.1:n.5739+12T>G
XM_006724471.2:c.5739+12T>G	XP_006724534.1:n.5739+12T>G
XM_006724472.2:c.5610+12T>G	XP_006724535.1:n.5610+12T>G
XM_006724473.2:c.5601+12T>G	XP_006724536.1:n.5601+12T>G
XM_006724474.2:c.5739+12T>G	XP_006724537.1:n.5739+12T>G
XM_006724475.2:c.5739+12T>G	XP_006724538.1:n.5739+12T>G
XM_011545467.1:c.5616+12T>G	XP_011543769.1:n.5616+12T>G
XM_011545468.1:c.5739+12T>G	XP_011543770.1:n.5739+12T>G
XM_011545469.1:c.5739+12T>G	XP_011543771.1:n.5739+12T>G
XM_006724469.3:c.5715+12T>G	XP_006724532.1:n.5715+12T>G
XM_006724470.3:c.5739+12T>G	XP_006724533.1:n.5739+12T>G
XM_006724474.3:c.5739+12T>G	XP_006724537.1:n.5739+12T>G
XM_011545468.2:c.5739+12T>G	XP_011543770.1:n.5739+12T>G
XM_017029328.1:c.5739+12T>G	XP_016884817.1:n.5739+12T>G
XM_017029329.1:c.5739+12T>G	XP_016884818.1:n.5739+12T>G
XM_017029330.2:c.5739+12T>G	XP_016884819.1:n.5739+12T>G
NM_000109.4:c.5715+12T>G	NP_000100.3:n.5715+12T>G
NM_004006.3:c.5739+12T>G MANE Select	NP_003997.2:n.5739+12T>G
NM_004011.4:c.1716+12T>G	NP_004002.3:n.1716+12T>G
NM_004012.4:c.1707+12T>G	NP_004003.2:n.1707+12T>G