Canonical Allele Identifier: CA347552

Gene: DMD

Linked Data

• ClinVar Variation Id: 217206
• ClinVar RCV Id: RCV000201134 ; RCV000733885
• dbSNP Id: rs863225005
• MyVariant Identifiers: chrX:g.32360222G>A (hg19) ; chrX:g.32342105G>A (hg38)
• PubMed: PMID:15643612 ; PMID:19937601

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32342105G>A , CM000685.2:g.32342105G>A	GRCh38
NC_000023.10:g.32360222G>A , CM000685.1:g.32360222G>A	GRCh37
NC_000023.9:g.32270143G>A	NCBI36
NG_012232.1:g.1002505C>T , LRG_199:g.1002505C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.763C>T	ENSP00000350765.3:p.Gln255Ter
ENST00000357033.9:c.5917C>T MANE Select	ENSP00000354923.3:p.Gln1973Ter
ENST00000619831.5:c.1885C>T	ENSP00000479270.2:p.Gln629Ter
ENST00000357033.8:c.5917C>T	ENSP00000354923.3:p.Gln1973Ter
ENST00000378677.6:c.5905C>T	ENSP00000367948.2:p.Gln1969Ter
ENST00000488902.5:n.336-125042C>T
ENST00000619831.4:c.5905C>T	ENSP00000479270.1:p.Gln1969Ter
ENST00000620040.4:c.5917C>T	ENSP00000478150.1:p.Gln1973Ter
NM_000109.3:c.5893C>T	NP_000100.2:p.Gln1965Ter
NM_004006.2:c.5917C>T , LRG_199t1:c.5917C>T	NP_003997.1:p.Gln1973Ter
NM_004009.3:c.5905C>T	NP_004000.1:p.Gln1969Ter
NM_004010.3:c.5548C>T	NP_004001.1:p.Gln1850Ter
NM_004011.3:c.1894C>T	NP_004002.2:p.Gln632Ter
NM_004012.3:c.1885C>T	NP_004003.1:p.Gln629Ter
XM_006724468.2:c.5917C>T	XP_006724531.1:p.Gln1973Ter
XM_006724469.2:c.5893C>T	XP_006724532.1:p.Gln1965Ter
XM_006724470.2:c.5917C>T	XP_006724533.1:p.Gln1973Ter
XM_006724471.2:c.5917C>T	XP_006724534.1:p.Gln1973Ter
XM_006724472.2:c.5788C>T	XP_006724535.1:p.Gln1930Ter
XM_006724473.2:c.5779C>T	XP_006724536.1:p.Gln1927Ter
XM_006724474.2:c.5917C>T	XP_006724537.1:p.Gln1973Ter
XM_006724475.2:c.5917C>T	XP_006724538.1:p.Gln1973Ter
XM_011545467.1:c.5794C>T	XP_011543769.1:p.Gln1932Ter
XM_011545468.1:c.5917C>T	XP_011543770.1:p.Gln1973Ter
XM_006724469.3:c.5893C>T	XP_006724532.1:p.Gln1965Ter
XM_006724470.3:c.5917C>T	XP_006724533.1:p.Gln1973Ter
XM_006724474.3:c.5917C>T	XP_006724537.1:p.Gln1973Ter
XM_011545468.2:c.5917C>T	XP_011543770.1:p.Gln1973Ter
XM_017029328.1:c.5917C>T	XP_016884817.1:p.Gln1973Ter
XM_017029329.1:c.5917C>T	XP_016884818.1:p.Gln1973Ter
XM_017029330.2:c.5917C>T	XP_016884819.1:p.Gln1973Ter
XM_017029331.1:c.91C>T	XP_016884820.1:p.Gln31Ter
NM_000109.4:c.5893C>T	NP_000100.3:p.Gln1965Ter
NM_004006.3:c.5917C>T MANE Select	NP_003997.2:p.Gln1973Ter
NM_004011.4:c.1894C>T	NP_004002.3:p.Gln632Ter
NM_004012.4:c.1885C>T	NP_004003.2:p.Gln629Ter