Canonical Allele Identifier: CA412672073

Gene: DMD

Linked Data

• ClinVar Variation Id: 1726596
• ClinVar RCV Id: RCV002310280
• MyVariant Identifiers: chrX:g.32383219A>T (hg19) ; chrX:g.32365102A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365102A>T , CM000685.2:g.32365102A>T	GRCh38
NC_000023.10:g.32383219A>T , CM000685.1:g.32383219A>T	GRCh37
NC_000023.9:g.32293140A>T	NCBI36
NG_012232.1:g.979508T>A , LRG_199:g.979508T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4943T>A MANE Select	ENSP00000354923.3:p.Leu1648Ter
ENST00000619831.5:c.911T>A	ENSP00000479270.2:p.Leu304Ter
ENST00000357033.8:c.4943T>A	ENSP00000354923.3:p.Leu1648Ter
ENST00000378677.6:c.4931T>A	ENSP00000367948.2:p.Leu1644Ter
ENST00000420596.5:c.191T>A	ENSP00000399897.1:p.Leu64Ter
ENST00000448370.5:c.94-392T>A	ENSP00000388559.1:n.94-392T>A
ENST00000488902.5:n.336-148039T>A
ENST00000619831.4:c.4931T>A	ENSP00000479270.1:p.Leu1644Ter
ENST00000620040.4:c.4943T>A	ENSP00000478150.1:p.Leu1648Ter
NM_000109.3:c.4919T>A	NP_000100.2:p.Leu1640Ter
NM_004006.2:c.4943T>A , LRG_199t1:c.4943T>A	NP_003997.1:p.Leu1648Ter
NM_004009.3:c.4931T>A	NP_004000.1:p.Leu1644Ter
NM_004010.3:c.4574T>A	NP_004001.1:p.Leu1525Ter
NM_004011.3:c.920T>A	NP_004002.2:p.Leu307Ter
NM_004012.3:c.911T>A	NP_004003.1:p.Leu304Ter
XM_006724468.2:c.4943T>A	XP_006724531.1:p.Leu1648Ter
XM_006724469.2:c.4919T>A	XP_006724532.1:p.Leu1640Ter
XM_006724470.2:c.4943T>A	XP_006724533.1:p.Leu1648Ter
XM_006724471.2:c.4943T>A	XP_006724534.1:p.Leu1648Ter
XM_006724472.2:c.4814T>A	XP_006724535.1:p.Leu1605Ter
XM_006724473.2:c.4943T>A	XP_006724536.1:p.Leu1648Ter
XM_006724474.2:c.4943T>A	XP_006724537.1:p.Leu1648Ter
XM_006724475.2:c.4943T>A	XP_006724538.1:p.Leu1648Ter
XM_011545467.1:c.4943T>A	XP_011543769.1:p.Leu1648Ter
XM_011545468.1:c.4943T>A	XP_011543770.1:p.Leu1648Ter
XM_011545469.1:c.4943T>A	XP_011543771.1:p.Leu1648Ter
XM_006724469.3:c.4919T>A	XP_006724532.1:p.Leu1640Ter
XM_006724470.3:c.4943T>A	XP_006724533.1:p.Leu1648Ter
XM_006724474.3:c.4943T>A	XP_006724537.1:p.Leu1648Ter
XM_011545468.2:c.4943T>A	XP_011543770.1:p.Leu1648Ter
XM_017029328.1:c.4943T>A	XP_016884817.1:p.Leu1648Ter
XM_017029329.1:c.4943T>A	XP_016884818.1:p.Leu1648Ter
XM_017029330.2:c.4943T>A	XP_016884819.1:p.Leu1648Ter
NM_000109.4:c.4919T>A	NP_000100.3:p.Leu1640Ter
NM_004006.3:c.4943T>A MANE Select	NP_003997.2:p.Leu1648Ter
NM_004011.4:c.920T>A	NP_004002.3:p.Leu307Ter
NM_004012.4:c.911T>A	NP_004003.2:p.Leu304Ter