Canonical Allele Identifier: CA245015

Gene: DMD

Linked Data

• ClinVar Variation Id: 197078
• ClinVar RCV Id: RCV000178003 ; RCV001466851
• dbSNP Id: rs794727612
• gnomAD v4: X-32346048-C-T
• MyVariant Identifiers: chrX:g.32364165C>T (hg19) ; chrX:g.32346048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32346048C>T , CM000685.2:g.32346048C>T	GRCh38
NC_000023.10:g.32364165C>T , CM000685.1:g.32364165C>T	GRCh37
NC_000023.9:g.32274086C>T	NCBI36
NG_012232.1:g.998562G>A , LRG_199:g.998562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.327G>A	ENSP00000350765.3:p.Leu109=
ENST00000357033.9:c.5481G>A MANE Select	ENSP00000354923.3:p.Leu1827=
ENST00000619831.5:c.1449G>A	ENSP00000479270.2:p.Leu483=
ENST00000357033.8:c.5481G>A	ENSP00000354923.3:p.Leu1827=
ENST00000378677.6:c.5469G>A	ENSP00000367948.2:p.Leu1823=
ENST00000488902.5:n.336-128985G>A
ENST00000493412.1:c.138G>A	ENSP00000417725.1:p.Leu46=
ENST00000619831.4:c.5469G>A	ENSP00000479270.1:p.Leu1823=
ENST00000620040.4:c.5481G>A	ENSP00000478150.1:p.Leu1827=
NM_000109.3:c.5457G>A	NP_000100.2:p.Leu1819=
NM_004006.2:c.5481G>A , LRG_199t1:c.5481G>A	NP_003997.1:p.Leu1827=
NM_004009.3:c.5469G>A	NP_004000.1:p.Leu1823=
NM_004010.3:c.5112G>A	NP_004001.1:p.Leu1704=
NM_004011.3:c.1458G>A	NP_004002.2:p.Leu486=
NM_004012.3:c.1449G>A	NP_004003.1:p.Leu483=
XM_006724468.2:c.5481G>A	XP_006724531.1:p.Leu1827=
XM_006724469.2:c.5457G>A	XP_006724532.1:p.Leu1819=
XM_006724470.2:c.5481G>A	XP_006724533.1:p.Leu1827=
XM_006724471.2:c.5481G>A	XP_006724534.1:p.Leu1827=
XM_006724472.2:c.5352G>A	XP_006724535.1:p.Leu1784=
XM_006724473.2:c.5448+2358G>A	XP_006724536.1:n.5448+2358G>A
XM_006724474.2:c.5481G>A	XP_006724537.1:p.Leu1827=
XM_006724475.2:c.5481G>A	XP_006724538.1:p.Leu1827=
XM_011545467.1:c.5358G>A	XP_011543769.1:p.Leu1786=
XM_011545468.1:c.5481G>A	XP_011543770.1:p.Leu1827=
XM_011545469.1:c.5481G>A	XP_011543771.1:p.Leu1827=
XM_006724469.3:c.5457G>A	XP_006724532.1:p.Leu1819=
XM_006724470.3:c.5481G>A	XP_006724533.1:p.Leu1827=
XM_006724474.3:c.5481G>A	XP_006724537.1:p.Leu1827=
XM_011545468.2:c.5481G>A	XP_011543770.1:p.Leu1827=
XM_017029328.1:c.5481G>A	XP_016884817.1:p.Leu1827=
XM_017029329.1:c.5481G>A	XP_016884818.1:p.Leu1827=
XM_017029330.2:c.5481G>A	XP_016884819.1:p.Leu1827=
NM_000109.4:c.5457G>A	NP_000100.3:p.Leu1819=
NM_004006.3:c.5481G>A MANE Select	NP_003997.2:p.Leu1827=
NM_004011.4:c.1458G>A	NP_004002.3:p.Leu486=
NM_004012.4:c.1449G>A	NP_004003.2:p.Leu483=