Canonical Allele Identifier: CA412667762

Gene: DMD

Linked Data

• ClinVar Variation Id: 499610
• ClinVar RCV Id: RCV000592740 ; RCV003225949
• dbSNP Id: rs1557294228
• MyVariant Identifiers: chrX:g.32366564G>A (hg19) ; chrX:g.32348447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32348447G>A , CM000685.2:g.32348447G>A	GRCh38
NC_000023.10:g.32366564G>A , CM000685.1:g.32366564G>A	GRCh37
NC_000023.9:g.32276485G>A	NCBI36
NG_012232.1:g.996163C>T , LRG_199:g.996163C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.253C>T	ENSP00000350765.3:p.Gln85Ter
ENST00000357033.9:c.5407C>T MANE Select	ENSP00000354923.3:p.Gln1803Ter
ENST00000619831.5:c.1375C>T	ENSP00000479270.2:p.Gln459Ter
ENST00000357033.8:c.5407C>T	ENSP00000354923.3:p.Gln1803Ter
ENST00000378677.6:c.5395C>T	ENSP00000367948.2:p.Gln1799Ter
ENST00000488902.5:n.336-131384C>T
ENST00000493412.1:c.64C>T	ENSP00000417725.1:p.Gln22Ter
ENST00000619831.4:c.5395C>T	ENSP00000479270.1:p.Gln1799Ter
ENST00000620040.4:c.5407C>T	ENSP00000478150.1:p.Gln1803Ter
NM_000109.3:c.5383C>T	NP_000100.2:p.Gln1795Ter
NM_004006.2:c.5407C>T , LRG_199t1:c.5407C>T	NP_003997.1:p.Gln1803Ter
NM_004009.3:c.5395C>T	NP_004000.1:p.Gln1799Ter
NM_004010.3:c.5038C>T	NP_004001.1:p.Gln1680Ter
NM_004011.3:c.1384C>T	NP_004002.2:p.Gln462Ter
NM_004012.3:c.1375C>T	NP_004003.1:p.Gln459Ter
XM_006724468.2:c.5407C>T	XP_006724531.1:p.Gln1803Ter
XM_006724469.2:c.5383C>T	XP_006724532.1:p.Gln1795Ter
XM_006724470.2:c.5407C>T	XP_006724533.1:p.Gln1803Ter
XM_006724471.2:c.5407C>T	XP_006724534.1:p.Gln1803Ter
XM_006724472.2:c.5278C>T	XP_006724535.1:p.Gln1760Ter
XM_006724473.2:c.5407C>T	XP_006724536.1:p.Gln1803Ter
XM_006724474.2:c.5407C>T	XP_006724537.1:p.Gln1803Ter
XM_006724475.2:c.5407C>T	XP_006724538.1:p.Gln1803Ter
XM_011545467.1:c.5326-2367C>T	XP_011543769.1:n.5326-2367C>T
XM_011545468.1:c.5407C>T	XP_011543770.1:p.Gln1803Ter
XM_011545469.1:c.5407C>T	XP_011543771.1:p.Gln1803Ter
XM_006724469.3:c.5383C>T	XP_006724532.1:p.Gln1795Ter
XM_006724470.3:c.5407C>T	XP_006724533.1:p.Gln1803Ter
XM_006724474.3:c.5407C>T	XP_006724537.1:p.Gln1803Ter
XM_011545468.2:c.5407C>T	XP_011543770.1:p.Gln1803Ter
XM_017029328.1:c.5407C>T	XP_016884817.1:p.Gln1803Ter
XM_017029329.1:c.5407C>T	XP_016884818.1:p.Gln1803Ter
XM_017029330.2:c.5407C>T	XP_016884819.1:p.Gln1803Ter
NM_000109.4:c.5383C>T	NP_000100.3:p.Gln1795Ter
NM_004006.3:c.5407C>T MANE Select	NP_003997.2:p.Gln1803Ter
NM_004011.4:c.1384C>T	NP_004002.3:p.Gln462Ter
NM_004012.4:c.1375C>T	NP_004003.2:p.Gln459Ter