Canonical Allele Identifier: CA412666083

Gene: DMD

Linked Data

• ClinVar Variation Id: 2737153
• ClinVar RCV Id: RCV003513656
• dbSNP Id: rs2097753394
• MyVariant Identifiers: chrX:g.32361344G>T (hg19) ; chrX:g.32343227G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343227G>T , CM000685.2:g.32343227G>T	GRCh38
NC_000023.10:g.32361344G>T , CM000685.1:g.32361344G>T	GRCh37
NC_000023.9:g.32271265G>T	NCBI36
NG_012232.1:g.1001383C>A , LRG_199:g.1001383C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.492C>A	ENSP00000350765.3:p.Tyr164Ter
ENST00000357033.9:c.5646C>A MANE Select	ENSP00000354923.3:p.Tyr1882Ter
ENST00000619831.5:c.1614C>A	ENSP00000479270.2:p.Tyr538Ter
ENST00000357033.8:c.5646C>A	ENSP00000354923.3:p.Tyr1882Ter
ENST00000378677.6:c.5634C>A	ENSP00000367948.2:p.Tyr1878Ter
ENST00000488902.5:n.336-126164C>A
ENST00000493412.1:c.303C>A	ENSP00000417725.1:p.Tyr101Ter
ENST00000619831.4:c.5634C>A	ENSP00000479270.1:p.Tyr1878Ter
ENST00000620040.4:c.5646C>A	ENSP00000478150.1:p.Tyr1882Ter
NM_000109.3:c.5622C>A	NP_000100.2:p.Tyr1874Ter
NM_004006.2:c.5646C>A , LRG_199t1:c.5646C>A	NP_003997.1:p.Tyr1882Ter
NM_004009.3:c.5634C>A	NP_004000.1:p.Tyr1878Ter
NM_004010.3:c.5277C>A	NP_004001.1:p.Tyr1759Ter
NM_004011.3:c.1623C>A	NP_004002.2:p.Tyr541Ter
NM_004012.3:c.1614C>A	NP_004003.1:p.Tyr538Ter
XM_006724468.2:c.5646C>A	XP_006724531.1:p.Tyr1882Ter
XM_006724469.2:c.5622C>A	XP_006724532.1:p.Tyr1874Ter
XM_006724470.2:c.5646C>A	XP_006724533.1:p.Tyr1882Ter
XM_006724471.2:c.5646C>A	XP_006724534.1:p.Tyr1882Ter
XM_006724472.2:c.5517C>A	XP_006724535.1:p.Tyr1839Ter
XM_006724473.2:c.5508C>A	XP_006724536.1:p.Tyr1836Ter
XM_006724474.2:c.5646C>A	XP_006724537.1:p.Tyr1882Ter
XM_006724475.2:c.5646C>A	XP_006724538.1:p.Tyr1882Ter
XM_011545467.1:c.5523C>A	XP_011543769.1:p.Tyr1841Ter
XM_011545468.1:c.5646C>A	XP_011543770.1:p.Tyr1882Ter
XM_011545469.1:c.5646C>A	XP_011543771.1:p.Tyr1882Ter
XM_006724469.3:c.5622C>A	XP_006724532.1:p.Tyr1874Ter
XM_006724470.3:c.5646C>A	XP_006724533.1:p.Tyr1882Ter
XM_006724474.3:c.5646C>A	XP_006724537.1:p.Tyr1882Ter
XM_011545468.2:c.5646C>A	XP_011543770.1:p.Tyr1882Ter
XM_017029328.1:c.5646C>A	XP_016884817.1:p.Tyr1882Ter
XM_017029329.1:c.5646C>A	XP_016884818.1:p.Tyr1882Ter
XM_017029330.2:c.5646C>A	XP_016884819.1:p.Tyr1882Ter
NM_000109.4:c.5622C>A	NP_000100.3:p.Tyr1874Ter
NM_004006.3:c.5646C>A MANE Select	NP_003997.2:p.Tyr1882Ter
NM_004011.4:c.1623C>A	NP_004002.3:p.Tyr541Ter
NM_004012.4:c.1614C>A	NP_004003.2:p.Tyr538Ter