Canonical Allele Identifier: CA10378879

Gene: DMD

Linked Data

• ClinVar Variation Id: 409921
• ClinVar RCV Id: RCV000593867 ; RCV001087423 ; RCV001167968 ; RCV001833588 ; RCV002339170
• dbSNP Id: rs755206033
• ExAC: X:32398751 C / T
• gnomAD v2: X-32398751-C-T
• gnomAD v3: X-32380634-C-T
• gnomAD v4: X-32380634-C-T
• MyVariant Identifiers: chrX:g.32398751C>T (hg19) ; chrX:g.32380634C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32380634C>T , CM000685.2:g.32380634C>T	GRCh38
NC_000023.10:g.32398751C>T , CM000685.1:g.32398751C>T	GRCh37
NC_000023.9:g.32308672C>T	NCBI36
NG_012232.1:g.963976G>A , LRG_199:g.963976G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4721G>A MANE Select	ENSP00000354923.3:p.Arg1574His
ENST00000619831.5:c.689G>A	ENSP00000479270.2:p.Arg230His
ENST00000357033.8:c.4721G>A	ENSP00000354923.3:p.Arg1574His
ENST00000378677.6:c.4709G>A	ENSP00000367948.2:p.Arg1570His
ENST00000420596.5:c.94-15435G>A	ENSP00000399897.1:n.94-15435G>A
ENST00000448370.5:c.94-15924G>A	ENSP00000388559.1:n.94-15924G>A
ENST00000488902.5:n.336-163571G>A
ENST00000619831.4:c.4709G>A	ENSP00000479270.1:p.Arg1570His
ENST00000620040.4:c.4721G>A	ENSP00000478150.1:p.Arg1574His
NM_000109.3:c.4697G>A	NP_000100.2:p.Arg1566His
NM_004006.2:c.4721G>A , LRG_199t1:c.4721G>A	NP_003997.1:p.Arg1574His
NM_004009.3:c.4709G>A	NP_004000.1:p.Arg1570His
NM_004010.3:c.4352G>A	NP_004001.1:p.Arg1451His
NM_004011.3:c.698G>A	NP_004002.2:p.Arg233His
NM_004012.3:c.689G>A	NP_004003.1:p.Arg230His
XM_006724468.2:c.4721G>A	XP_006724531.1:p.Arg1574His
XM_006724469.2:c.4697G>A	XP_006724532.1:p.Arg1566His
XM_006724470.2:c.4721G>A	XP_006724533.1:p.Arg1574His
XM_006724471.2:c.4721G>A	XP_006724534.1:p.Arg1574His
XM_006724472.2:c.4592G>A	XP_006724535.1:p.Arg1531His
XM_006724473.2:c.4721G>A	XP_006724536.1:p.Arg1574His
XM_006724474.2:c.4721G>A	XP_006724537.1:p.Arg1574His
XM_006724475.2:c.4721G>A	XP_006724538.1:p.Arg1574His
XM_011545467.1:c.4721G>A	XP_011543769.1:p.Arg1574His
XM_011545468.1:c.4721G>A	XP_011543770.1:p.Arg1574His
XM_011545469.1:c.4721G>A	XP_011543771.1:p.Arg1574His
XM_006724469.3:c.4697G>A	XP_006724532.1:p.Arg1566His
XM_006724470.3:c.4721G>A	XP_006724533.1:p.Arg1574His
XM_006724474.3:c.4721G>A	XP_006724537.1:p.Arg1574His
XM_011545468.2:c.4721G>A	XP_011543770.1:p.Arg1574His
XM_017029328.1:c.4721G>A	XP_016884817.1:p.Arg1574His
XM_017029329.1:c.4721G>A	XP_016884818.1:p.Arg1574His
XM_017029330.2:c.4721G>A	XP_016884819.1:p.Arg1574His
NM_000109.4:c.4697G>A	NP_000100.3:p.Arg1566His
NM_004006.3:c.4721G>A MANE Select	NP_003997.2:p.Arg1574His
NM_004011.4:c.698G>A	NP_004002.3:p.Arg233His
NM_004012.4:c.689G>A	NP_004003.2:p.Arg230His