Canonical Allele Identifier: CA308410

Gene: DMD

Linked Data

• ClinVar Variation Id: 201755
• ClinVar RCV Id: RCV000230029 ; RCV000730253 ; RCV002354490
• dbSNP Id: rs367702968
• ExAC: X:32328264 G / T
• gnomAD v2: X-32328264-G-T
• gnomAD v3: X-32310147-G-T
• gnomAD v4: X-32310147-G-T
• COSMIC: COSM4109077 ; COSM4109078 ; COSM4109079 ; COSM4109080
• MyVariant Identifiers: chrX:g.32328264G>T (hg19) ; chrX:g.32310147G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32310147G>T , CM000685.2:g.32310147G>T	GRCh38
NC_000023.10:g.32328264G>T , CM000685.1:g.32328264G>T	GRCh37
NC_000023.9:g.32238185G>T	NCBI36
NG_012232.1:g.1034463C>A , LRG_199:g.1034463C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.898C>A	ENSP00000350765.3:p.Leu300Ile
ENST00000357033.9:c.6052C>A MANE Select	ENSP00000354923.3:p.Leu2018Ile
ENST00000619831.5:c.2020C>A	ENSP00000479270.2:p.Leu674Ile
ENST00000357033.8:c.6052C>A	ENSP00000354923.3:p.Leu2018Ile
ENST00000378677.6:c.6040C>A	ENSP00000367948.2:p.Leu2014Ile
ENST00000488902.5:n.336-93084C>A
ENST00000619831.4:c.6040C>A	ENSP00000479270.1:p.Leu2014Ile
ENST00000620040.4:c.6052C>A	ENSP00000478150.1:p.Leu2018Ile
NM_000109.3:c.6028C>A	NP_000100.2:p.Leu2010Ile
NM_004006.2:c.6052C>A , LRG_199t1:c.6052C>A	NP_003997.1:p.Leu2018Ile
NM_004009.3:c.6040C>A	NP_004000.1:p.Leu2014Ile
NM_004010.3:c.5683C>A	NP_004001.1:p.Leu1895Ile
NM_004011.3:c.2029C>A	NP_004002.2:p.Leu677Ile
NM_004012.3:c.2020C>A	NP_004003.1:p.Leu674Ile
XM_006724468.2:c.6052C>A	XP_006724531.1:p.Leu2018Ile
XM_006724469.2:c.6028C>A	XP_006724532.1:p.Leu2010Ile
XM_006724470.2:c.6052C>A	XP_006724533.1:p.Leu2018Ile
XM_006724471.2:c.6052C>A	XP_006724534.1:p.Leu2018Ile
XM_006724472.2:c.5923C>A	XP_006724535.1:p.Leu1975Ile
XM_006724473.2:c.5914C>A	XP_006724536.1:p.Leu1972Ile
XM_006724474.2:c.6052C>A	XP_006724537.1:p.Leu2018Ile
XM_006724475.2:c.6052C>A	XP_006724538.1:p.Leu2018Ile
XM_011545467.1:c.5929C>A	XP_011543769.1:p.Leu1977Ile
XM_011545468.1:c.6052C>A	XP_011543770.1:p.Leu2018Ile
XM_006724469.3:c.6028C>A	XP_006724532.1:p.Leu2010Ile
XM_006724470.3:c.6052C>A	XP_006724533.1:p.Leu2018Ile
XM_006724474.3:c.6052C>A	XP_006724537.1:p.Leu2018Ile
XM_011545468.2:c.6052C>A	XP_011543770.1:p.Leu2018Ile
XM_017029328.1:c.6052C>A	XP_016884817.1:p.Leu2018Ile
XM_017029329.1:c.6052C>A	XP_016884818.1:p.Leu2018Ile
XM_017029330.2:c.6052C>A	XP_016884819.1:p.Leu2018Ile
XM_017029331.1:c.226C>A	XP_016884820.1:p.Leu76Ile
NM_000109.4:c.6028C>A	NP_000100.3:p.Leu2010Ile
NM_004006.3:c.6052C>A MANE Select	NP_003997.2:p.Leu2018Ile
NM_004011.4:c.2029C>A	NP_004002.3:p.Leu677Ile
NM_004012.4:c.2020C>A	NP_004003.2:p.Leu674Ile