Canonical Allele Identifier: CA346882

Gene: DMD

Linked Data

• ClinVar Variation Id: 197434
• ClinVar RCV Id: RCV000178462 ; RCV002250590 ; RCV002517735
• dbSNP Id: rs794727666
• MyVariant Identifiers: chrX:g.32360271C>T (hg19) ; chrX:g.32342154C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32342154C>T , CM000685.2:g.32342154C>T	GRCh38
NC_000023.10:g.32360271C>T , CM000685.1:g.32360271C>T	GRCh37
NC_000023.9:g.32270192C>T	NCBI36
NG_012232.1:g.1002456G>A , LRG_199:g.1002456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.714G>A	ENSP00000350765.3:p.Trp238Ter
ENST00000357033.9:c.5868G>A MANE Select	ENSP00000354923.3:p.Trp1956Ter
ENST00000619831.5:c.1836G>A	ENSP00000479270.2:p.Trp612Ter
ENST00000357033.8:c.5868G>A	ENSP00000354923.3:p.Trp1956Ter
ENST00000378677.6:c.5856G>A	ENSP00000367948.2:p.Trp1952Ter
ENST00000488902.5:n.336-125091G>A
ENST00000619831.4:c.5856G>A	ENSP00000479270.1:p.Trp1952Ter
ENST00000620040.4:c.5868G>A	ENSP00000478150.1:p.Trp1956Ter
NM_000109.3:c.5844G>A	NP_000100.2:p.Trp1948Ter
NM_004006.2:c.5868G>A , LRG_199t1:c.5868G>A	NP_003997.1:p.Trp1956Ter
NM_004009.3:c.5856G>A	NP_004000.1:p.Trp1952Ter
NM_004010.3:c.5499G>A	NP_004001.1:p.Trp1833Ter
NM_004011.3:c.1845G>A	NP_004002.2:p.Trp615Ter
NM_004012.3:c.1836G>A	NP_004003.1:p.Trp612Ter
XM_006724468.2:c.5868G>A	XP_006724531.1:p.Trp1956Ter
XM_006724469.2:c.5844G>A	XP_006724532.1:p.Trp1948Ter
XM_006724470.2:c.5868G>A	XP_006724533.1:p.Trp1956Ter
XM_006724471.2:c.5868G>A	XP_006724534.1:p.Trp1956Ter
XM_006724472.2:c.5739G>A	XP_006724535.1:p.Trp1913Ter
XM_006724473.2:c.5730G>A	XP_006724536.1:p.Trp1910Ter
XM_006724474.2:c.5868G>A	XP_006724537.1:p.Trp1956Ter
XM_006724475.2:c.5868G>A	XP_006724538.1:p.Trp1956Ter
XM_011545467.1:c.5745G>A	XP_011543769.1:p.Trp1915Ter
XM_011545468.1:c.5868G>A	XP_011543770.1:p.Trp1956Ter
XM_006724469.3:c.5844G>A	XP_006724532.1:p.Trp1948Ter
XM_006724470.3:c.5868G>A	XP_006724533.1:p.Trp1956Ter
XM_006724474.3:c.5868G>A	XP_006724537.1:p.Trp1956Ter
XM_011545468.2:c.5868G>A	XP_011543770.1:p.Trp1956Ter
XM_017029328.1:c.5868G>A	XP_016884817.1:p.Trp1956Ter
XM_017029329.1:c.5868G>A	XP_016884818.1:p.Trp1956Ter
XM_017029330.2:c.5868G>A	XP_016884819.1:p.Trp1956Ter
XM_017029331.1:c.42G>A	XP_016884820.1:p.Trp14Ter
NM_000109.4:c.5844G>A	NP_000100.3:p.Trp1948Ter
NM_004006.3:c.5868G>A MANE Select	NP_003997.2:p.Trp1956Ter
NM_004011.4:c.1845G>A	NP_004002.3:p.Trp615Ter
NM_004012.4:c.1836G>A	NP_004003.2:p.Trp612Ter