Canonical Allele Identifier: CA10380045

Gene: DMD

Linked Data

• ClinVar Variation Id: 1762948
• ClinVar RCV Id: RCV002430450 ; RCV003146549
• dbSNP Id: rs779964937
• ExAC: X:32716115 T / C
• gnomAD v2: X-32716115-T-C
• gnomAD v4: X-32697998-T-C
• MyVariant Identifiers: chrX:g.32716115T>C (hg19) ; chrX:g.32697998T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32697998T>C , CM000685.2:g.32697998T>C	GRCh38
NC_000023.10:g.32716115T>C , CM000685.1:g.32716115T>C	GRCh37
NC_000023.9:g.32626036T>C	NCBI36
NG_012232.1:g.646612A>G , LRG_199:g.646612A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682071.1:c.463A>G	ENSP00000508133.1:p.Ile155Val
ENST00000682870.1:n.1017A>G
ENST00000682899.1:n.1039A>G
ENST00000682924.1:c.832A>G	ENSP00000508187.1:p.Ile278Val
ENST00000683985.1:n.1039A>G
ENST00000684165.1:n.1039A>G
ENST00000684237.1:c.831+1114A>G	ENSP00000507277.1:n.831+1114A>G
ENST00000684292.1:n.1039A>G
ENST00000288447.9:c.808A>G	ENSP00000288447.4:p.Ile270Val
ENST00000357033.9:c.832A>G MANE Select	ENSP00000354923.3:p.Ile278Val
ENST00000288447.8:c.808A>G	ENSP00000288447.4:p.Ile270Val
ENST00000357033.8:c.832A>G	ENSP00000354923.3:p.Ile278Val
ENST00000378677.6:c.820A>G	ENSP00000367948.2:p.Ile274Val
ENST00000420596.5:c.93+322141A>G	ENSP00000399897.1:n.93+322141A>G
ENST00000447523.1:c.247-124152A>G	ENSP00000395904.1:n.247-124152A>G
ENST00000448370.5:c.93+322141A>G	ENSP00000388559.1:n.93+322141A>G
ENST00000480751.1:n.86+118470A>G
ENST00000488902.5:n.335+322141A>G
ENST00000619831.4:c.820A>G	ENSP00000479270.1:p.Ile274Val
ENST00000620040.4:c.832A>G	ENSP00000478150.1:p.Ile278Val
NM_000109.3:c.808A>G	NP_000100.2:p.Ile270Val
NM_004006.2:c.832A>G , LRG_199t1:c.832A>G	NP_003997.1:p.Ile278Val
NM_004009.3:c.820A>G	NP_004000.1:p.Ile274Val
NM_004010.3:c.463A>G	NP_004001.1:p.Ile155Val
XM_006724468.2:c.832A>G	XP_006724531.1:p.Ile278Val
XM_006724469.2:c.808A>G	XP_006724532.1:p.Ile270Val
XM_006724470.2:c.832A>G	XP_006724533.1:p.Ile278Val
XM_006724471.2:c.832A>G	XP_006724534.1:p.Ile278Val
XM_006724472.2:c.831+1114A>G	XP_006724535.1:n.831+1114A>G
XM_006724473.2:c.832A>G	XP_006724536.1:p.Ile278Val
XM_006724474.2:c.832A>G	XP_006724537.1:p.Ile278Val
XM_006724475.2:c.832A>G	XP_006724538.1:p.Ile278Val
XM_011545467.1:c.832A>G	XP_011543769.1:p.Ile278Val
XM_011545468.1:c.832A>G	XP_011543770.1:p.Ile278Val
XM_011545469.1:c.832A>G	XP_011543771.1:p.Ile278Val
XM_006724469.3:c.808A>G	XP_006724532.1:p.Ile270Val
XM_006724470.3:c.832A>G	XP_006724533.1:p.Ile278Val
XM_006724474.3:c.832A>G	XP_006724537.1:p.Ile278Val
XM_011545468.2:c.832A>G	XP_011543770.1:p.Ile278Val
XM_017029328.1:c.832A>G	XP_016884817.1:p.Ile278Val
XM_017029329.1:c.832A>G	XP_016884818.1:p.Ile278Val
XM_017029330.2:c.832A>G	XP_016884819.1:p.Ile278Val
NM_000109.4:c.808A>G	NP_000100.3:p.Ile270Val
NM_004006.3:c.832A>G MANE Select	NP_003997.2:p.Ile278Val