Canonical Allele Identifier: CA10603839

Gene: DMD

Linked Data

• ClinVar Variation Id: 281312
• ClinVar RCV Id: RCV000337628 ; RCV002059074
• dbSNP Id: rs886042125
• gnomAD v4: X-32348496-A-G
• MyVariant Identifiers: chrX:g.32366613A>G (hg19) ; chrX:g.32348496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32348496A>G , CM000685.2:g.32348496A>G	GRCh38
NC_000023.10:g.32366613A>G , CM000685.1:g.32366613A>G	GRCh37
NC_000023.9:g.32276534A>G	NCBI36
NG_012232.1:g.996114T>C , LRG_199:g.996114T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.204T>C	ENSP00000350765.3:p.Phe68=
ENST00000357033.9:c.5358T>C MANE Select	ENSP00000354923.3:p.Phe1786=
ENST00000619831.5:c.1326T>C	ENSP00000479270.2:p.Phe442=
ENST00000357033.8:c.5358T>C	ENSP00000354923.3:p.Phe1786=
ENST00000378677.6:c.5346T>C	ENSP00000367948.2:p.Phe1782=
ENST00000488902.5:n.336-131433T>C
ENST00000493412.1:c.15T>C	ENSP00000417725.1:p.Phe5=
ENST00000619831.4:c.5346T>C	ENSP00000479270.1:p.Phe1782=
ENST00000620040.4:c.5358T>C	ENSP00000478150.1:p.Phe1786=
NM_000109.3:c.5334T>C	NP_000100.2:p.Phe1778=
NM_004006.2:c.5358T>C , LRG_199t1:c.5358T>C	NP_003997.1:p.Phe1786=
NM_004009.3:c.5346T>C	NP_004000.1:p.Phe1782=
NM_004010.3:c.4989T>C	NP_004001.1:p.Phe1663=
NM_004011.3:c.1335T>C	NP_004002.2:p.Phe445=
NM_004012.3:c.1326T>C	NP_004003.1:p.Phe442=
XM_006724468.2:c.5358T>C	XP_006724531.1:p.Phe1786=
XM_006724469.2:c.5334T>C	XP_006724532.1:p.Phe1778=
XM_006724470.2:c.5358T>C	XP_006724533.1:p.Phe1786=
XM_006724471.2:c.5358T>C	XP_006724534.1:p.Phe1786=
XM_006724472.2:c.5229T>C	XP_006724535.1:p.Phe1743=
XM_006724473.2:c.5358T>C	XP_006724536.1:p.Phe1786=
XM_006724474.2:c.5358T>C	XP_006724537.1:p.Phe1786=
XM_006724475.2:c.5358T>C	XP_006724538.1:p.Phe1786=
XM_011545467.1:c.5326-2416T>C	XP_011543769.1:n.5326-2416T>C
XM_011545468.1:c.5358T>C	XP_011543770.1:p.Phe1786=
XM_011545469.1:c.5358T>C	XP_011543771.1:p.Phe1786=
XM_006724469.3:c.5334T>C	XP_006724532.1:p.Phe1778=
XM_006724470.3:c.5358T>C	XP_006724533.1:p.Phe1786=
XM_006724474.3:c.5358T>C	XP_006724537.1:p.Phe1786=
XM_011545468.2:c.5358T>C	XP_011543770.1:p.Phe1786=
XM_017029328.1:c.5358T>C	XP_016884817.1:p.Phe1786=
XM_017029329.1:c.5358T>C	XP_016884818.1:p.Phe1786=
XM_017029330.2:c.5358T>C	XP_016884819.1:p.Phe1786=
NM_000109.4:c.5334T>C	NP_000100.3:p.Phe1778=
NM_004006.3:c.5358T>C MANE Select	NP_003997.2:p.Phe1786=
NM_004011.4:c.1335T>C	NP_004002.3:p.Phe445=
NM_004012.4:c.1326T>C	NP_004003.2:p.Phe442=