Canonical Allele Identifier: CA412668465

Gene: DMD

Linked Data

• ClinVar Variation Id: 2450337
• ClinVar RCV Id: RCV003176871
• gnomAD v4: X-32697904-G-T
• MyVariant Identifiers: chrX:g.32716021G>T (hg19) ; chrX:g.32697904G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32697904G>T , CM000685.2:g.32697904G>T	GRCh38
NC_000023.10:g.32716021G>T , CM000685.1:g.32716021G>T	GRCh37
NC_000023.9:g.32625942G>T	NCBI36
NG_012232.1:g.646706C>A , LRG_199:g.646706C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682071.1:c.557C>A	ENSP00000508133.1:p.Thr186Asn
ENST00000682870.1:n.1111C>A
ENST00000682899.1:n.1133C>A
ENST00000682924.1:c.926C>A	ENSP00000508187.1:p.Thr309Asn
ENST00000683985.1:n.1133C>A
ENST00000684165.1:n.1133C>A
ENST00000684237.1:c.831+1208C>A	ENSP00000507277.1:n.831+1208C>A
ENST00000684292.1:n.1133C>A
ENST00000288447.9:c.902C>A	ENSP00000288447.4:p.Thr301Asn
ENST00000357033.9:c.926C>A MANE Select	ENSP00000354923.3:p.Thr309Asn
ENST00000288447.8:c.902C>A	ENSP00000288447.4:p.Thr301Asn
ENST00000357033.8:c.926C>A	ENSP00000354923.3:p.Thr309Asn
ENST00000378677.6:c.914C>A	ENSP00000367948.2:p.Thr305Asn
ENST00000420596.5:c.93+322235C>A	ENSP00000399897.1:n.93+322235C>A
ENST00000447523.1:c.247-124058C>A	ENSP00000395904.1:n.247-124058C>A
ENST00000448370.5:c.93+322235C>A	ENSP00000388559.1:n.93+322235C>A
ENST00000480751.1:n.86+118564C>A
ENST00000488902.5:n.335+322235C>A
ENST00000619831.4:c.914C>A	ENSP00000479270.1:p.Thr305Asn
ENST00000620040.4:c.926C>A	ENSP00000478150.1:p.Thr309Asn
NM_000109.3:c.902C>A	NP_000100.2:p.Thr301Asn
NM_004006.2:c.926C>A , LRG_199t1:c.926C>A	NP_003997.1:p.Thr309Asn
NM_004009.3:c.914C>A	NP_004000.1:p.Thr305Asn
NM_004010.3:c.557C>A	NP_004001.1:p.Thr186Asn
XM_006724468.2:c.926C>A	XP_006724531.1:p.Thr309Asn
XM_006724469.2:c.902C>A	XP_006724532.1:p.Thr301Asn
XM_006724470.2:c.926C>A	XP_006724533.1:p.Thr309Asn
XM_006724471.2:c.926C>A	XP_006724534.1:p.Thr309Asn
XM_006724472.2:c.831+1208C>A	XP_006724535.1:n.831+1208C>A
XM_006724473.2:c.926C>A	XP_006724536.1:p.Thr309Asn
XM_006724474.2:c.926C>A	XP_006724537.1:p.Thr309Asn
XM_006724475.2:c.926C>A	XP_006724538.1:p.Thr309Asn
XM_011545467.1:c.926C>A	XP_011543769.1:p.Thr309Asn
XM_011545468.1:c.926C>A	XP_011543770.1:p.Thr309Asn
XM_011545469.1:c.926C>A	XP_011543771.1:p.Thr309Asn
XM_006724469.3:c.902C>A	XP_006724532.1:p.Thr301Asn
XM_006724470.3:c.926C>A	XP_006724533.1:p.Thr309Asn
XM_006724474.3:c.926C>A	XP_006724537.1:p.Thr309Asn
XM_011545468.2:c.926C>A	XP_011543770.1:p.Thr309Asn
XM_017029328.1:c.926C>A	XP_016884817.1:p.Thr309Asn
XM_017029329.1:c.926C>A	XP_016884818.1:p.Thr309Asn
XM_017029330.2:c.926C>A	XP_016884819.1:p.Thr309Asn
NM_000109.4:c.902C>A	NP_000100.3:p.Thr301Asn
NM_004006.3:c.926C>A MANE Select	NP_003997.2:p.Thr309Asn