Canonical Allele Identifier: CA259713

Gene: DMD

Linked Data

• ClinVar Variation Id: 29962
• ClinVar RCV Id: RCV000022854 ; RCV000173322 ; RCV000183395 ; RCV000984166 ; RCV001264540 ; RCV001274389
• dbSNP Id: rs398122853
• gnomAD v4: X-33211304-C-T
• MyVariant Identifiers: chrX:g.33229421C>T (hg19) ; chrX:g.33211304C>T (hg38)
• PubMed: PMID:12632325 ; PMID:19206170 ; PMID:19793655 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.33211304C>T , CM000685.2:g.33211304C>T	GRCh38
NC_000023.10:g.33229421C>T , CM000685.1:g.33229421C>T	GRCh37
NC_000023.9:g.33139342C>T	NCBI36
NG_012232.1:g.133306G>A , LRG_199:g.133306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463609.2:n.193G>A
ENST00000682071.1:c.-523G>A	ENSP00000508133.1:n.-523G>A
ENST00000682307.1:n.193G>A
ENST00000682437.1:n.193G>A
ENST00000682439.1:n.193G>A
ENST00000682584.1:n.193G>A
ENST00000682870.1:n.194G>A
ENST00000682899.1:n.216G>A
ENST00000682924.1:c.9G>A	ENSP00000508187.1:p.Trp3Ter
ENST00000683309.1:n.193G>A
ENST00000683658.1:n.192G>A
ENST00000683985.1:n.216G>A
ENST00000684056.1:n.193G>A
ENST00000684165.1:n.216G>A
ENST00000684237.1:c.9G>A	ENSP00000507277.1:p.Trp3Ter
ENST00000684292.1:n.216G>A
ENST00000684357.1:n.193G>A
ENST00000684660.1:n.194G>A
ENST00000288447.9:c.7+127955G>A	ENSP00000288447.4:n.7+127955G>A
ENST00000357033.9:c.9G>A MANE Select	ENSP00000354923.3:p.Trp3Ter
ENST00000288447.8:c.7+127955G>A	ENSP00000288447.4:n.7+127955G>A
ENST00000357033.8:c.9G>A	ENSP00000354923.3:p.Trp3Ter
ENST00000420596.5:c.9G>A	ENSP00000399897.1:p.Trp3Ter
ENST00000448370.5:c.9G>A	ENSP00000388559.1:p.Trp3Ter
ENST00000463609.1:n.129G>A
ENST00000488902.5:n.251G>A
ENST00000620040.4:c.9G>A	ENSP00000478150.1:p.Trp3Ter
NM_000109.3:c.7+127955G>A	NP_000100.2:n.7+127955G>A
NM_004006.2:c.9G>A , LRG_199t1:c.9G>A	NP_003997.1:p.Trp3Ter
XM_006724468.2:c.9G>A	XP_006724531.1:p.Trp3Ter
XM_006724469.2:c.7+127955G>A	XP_006724532.1:n.7+127955G>A
XM_006724470.2:c.9G>A	XP_006724533.1:p.Trp3Ter
XM_006724471.2:c.9G>A	XP_006724534.1:p.Trp3Ter
XM_006724472.2:c.9G>A	XP_006724535.1:p.Trp3Ter
XM_006724473.2:c.9G>A	XP_006724536.1:p.Trp3Ter
XM_006724474.2:c.9G>A	XP_006724537.1:p.Trp3Ter
XM_006724475.2:c.9G>A	XP_006724538.1:p.Trp3Ter
XM_011545467.1:c.9G>A	XP_011543769.1:p.Trp3Ter
XM_011545468.1:c.9G>A	XP_011543770.1:p.Trp3Ter
XM_011545469.1:c.9G>A	XP_011543771.1:p.Trp3Ter
XM_006724469.3:c.7+127955G>A	XP_006724532.1:n.7+127955G>A
XM_006724470.3:c.9G>A	XP_006724533.1:p.Trp3Ter
XM_006724474.3:c.9G>A	XP_006724537.1:p.Trp3Ter
XM_011545468.2:c.9G>A	XP_011543770.1:p.Trp3Ter
XM_017029328.1:c.9G>A	XP_016884817.1:p.Trp3Ter
XM_017029329.1:c.9G>A	XP_016884818.1:p.Trp3Ter
XM_017029330.2:c.9G>A	XP_016884819.1:p.Trp3Ter
NM_000109.4:c.7+127955G>A	NP_000100.3:n.7+127955G>A
NM_004006.3:c.9G>A MANE Select	NP_003997.2:p.Trp3Ter