Canonical Allele Identifier: CA412665244

Gene: DMD

Linked Data

• ClinVar Variation Id: 497183
• ClinVar RCV Id: RCV000593877 ; RCV001854000
• dbSNP Id: rs1057517960
• MyVariant Identifiers: chrX:g.32613873C>A (hg19) ; chrX:g.32595756C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32595756C>A , CM000685.2:g.32595756C>A	GRCh38
NC_000023.10:g.32613873C>A , CM000685.1:g.32613873C>A	GRCh37
NC_000023.9:g.32523794C>A	NCBI36
NG_012232.1:g.748854G>T , LRG_199:g.748854G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682071.1:c.1233+1G>T	ENSP00000508133.1:n.1233+1G>T
ENST00000682899.1:n.1809+1G>T
ENST00000682924.1:c.*101+1G>T	ENSP00000508187.1:n.*101+1G>T
ENST00000683985.1:n.1809+1G>T
ENST00000684165.1:n.1809+1G>T
ENST00000684292.1:n.1809+1G>T
ENST00000288447.9:c.1578+1G>T	ENSP00000288447.4:n.1578+1G>T
ENST00000357033.9:c.1602+1G>T MANE Select	ENSP00000354923.3:n.1602+1G>T
ENST00000288447.8:c.1578+1G>T	ENSP00000288447.4:n.1578+1G>T
ENST00000357033.8:c.1602+1G>T	ENSP00000354923.3:n.1602+1G>T
ENST00000378677.6:c.1590+1G>T	ENSP00000367948.2:n.1590+1G>T
ENST00000420596.5:c.94-230557G>T	ENSP00000399897.1:n.94-230557G>T
ENST00000447523.1:c.247-21910G>T	ENSP00000395904.1:n.247-21910G>T
ENST00000448370.5:c.94-231046G>T	ENSP00000388559.1:n.94-231046G>T
ENST00000480751.1:n.87-21910G>T
ENST00000488902.5:n.336-378693G>T
ENST00000619831.4:c.1590+1G>T	ENSP00000479270.1:n.1590+1G>T
ENST00000620040.4:c.1602+1G>T	ENSP00000478150.1:n.1602+1G>T
NM_000109.3:c.1578+1G>T	NP_000100.2:n.1578+1G>T
NM_004006.2:c.1602+1G>T , LRG_199t1:c.1602+1G>T	NP_003997.1:n.1602+1G>T
NM_004009.3:c.1590+1G>T	NP_004000.1:n.1590+1G>T
NM_004010.3:c.1233+1G>T	NP_004001.1:n.1233+1G>T
XM_006724468.2:c.1602+1G>T	XP_006724531.1:n.1602+1G>T
XM_006724469.2:c.1578+1G>T	XP_006724532.1:n.1578+1G>T
XM_006724470.2:c.1602+1G>T	XP_006724533.1:n.1602+1G>T
XM_006724471.2:c.1602+1G>T	XP_006724534.1:n.1602+1G>T
XM_006724472.2:c.1473+1G>T	XP_006724535.1:n.1473+1G>T
XM_006724473.2:c.1602+1G>T	XP_006724536.1:n.1602+1G>T
XM_006724474.2:c.1602+1G>T	XP_006724537.1:n.1602+1G>T
XM_006724475.2:c.1602+1G>T	XP_006724538.1:n.1602+1G>T
XM_011545467.1:c.1602+1G>T	XP_011543769.1:n.1602+1G>T
XM_011545468.1:c.1602+1G>T	XP_011543770.1:n.1602+1G>T
XM_011545469.1:c.1602+1G>T	XP_011543771.1:n.1602+1G>T
XM_006724469.3:c.1578+1G>T	XP_006724532.1:n.1578+1G>T
XM_006724470.3:c.1602+1G>T	XP_006724533.1:n.1602+1G>T
XM_006724474.3:c.1602+1G>T	XP_006724537.1:n.1602+1G>T
XM_011545468.2:c.1602+1G>T	XP_011543770.1:n.1602+1G>T
XM_017029328.1:c.1602+1G>T	XP_016884817.1:n.1602+1G>T
XM_017029329.1:c.1602+1G>T	XP_016884818.1:n.1602+1G>T
XM_017029330.2:c.1602+1G>T	XP_016884819.1:n.1602+1G>T
NM_000109.4:c.1578+1G>T	NP_000100.3:n.1578+1G>T
NM_004006.3:c.1602+1G>T MANE Select	NP_003997.2:n.1602+1G>T