Canonical Allele Identifier: CA412655151

Gene: DMD

Linked Data

• gnomAD v4: X-31444539-A-T
• MyVariant Identifiers: chrX:g.31462656A>T (hg19) ; chrX:g.31444539A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444539A>T , CM000685.2:g.31444539A>T	GRCh38
NC_000023.10:g.31462656A>T , CM000685.1:g.31462656A>T	GRCh37
NC_000023.9:g.31372577A>T	NCBI36
NG_012232.1:g.1900071T>A , LRG_199:g.1900071T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3872T>A	ENSP00000350765.3:p.Leu1291His
ENST00000682238.1:c.1646T>A	ENSP00000508124.1:p.Leu549His
ENST00000683450.1:n.2491T>A
ENST00000683957.1:n.2518T>A
ENST00000684130.1:c.1646T>A	ENSP00000508037.1:p.Leu549His
ENST00000343523.7:c.881T>A	ENSP00000340057.4:p.Leu294His
ENST00000357033.9:c.9026T>A MANE Select	ENSP00000354923.3:p.Leu3009His
ENST00000619831.5:c.4994T>A	ENSP00000479270.2:p.Leu1665His
ENST00000620040.5:c.1646T>A	ENSP00000478150.2:p.Leu549His
ENST00000680961.1:c.1646T>A	ENSP00000506386.1:p.Leu549His
ENST00000681646.1:n.2687T>A
ENST00000343523.6:c.839T>A	ENSP00000340057.3:p.Leu280His
ENST00000357033.8:c.9026T>A	ENSP00000354923.3:p.Leu3009His
ENST00000358062.6:c.2114T>A	ENSP00000350765.2:p.Leu705His
ENST00000359836.5:c.1646T>A	ENSP00000352894.1:p.Leu549His
ENST00000378677.6:c.9014T>A	ENSP00000367948.2:p.Leu3005His
ENST00000378707.7:c.1646T>A	ENSP00000367979.3:p.Leu549His
ENST00000474231.5:c.1646T>A	ENSP00000417123.1:p.Leu549His
ENST00000541735.5:c.1646T>A	ENSP00000444119.1:p.Leu549His
ENST00000619831.4:c.9011T>A	ENSP00000479270.1:p.Leu3004His
ENST00000620040.4:c.9023T>A	ENSP00000478150.1:p.Leu3008His
NM_000109.3:c.9002T>A	NP_000100.2:p.Leu3001His
NM_004006.2:c.9026T>A , LRG_199t1:c.9026T>A	NP_003997.1:p.Leu3009His
NM_004009.3:c.9014T>A	NP_004000.1:p.Leu3005His
NM_004010.3:c.8657T>A	NP_004001.1:p.Leu2886His
NM_004011.3:c.5003T>A	NP_004002.2:p.Leu1668His
NM_004012.3:c.4994T>A	NP_004003.1:p.Leu1665His
NM_004013.2:c.1646T>A	NP_004004.1:p.Leu549His
NM_004014.2:c.839T>A	NP_004005.1:p.Leu280His
NM_004020.3:c.1646T>A	NP_004011.2:p.Leu549His
NM_004021.2:c.1646T>A	NP_004012.1:p.Leu549His
NM_004022.2:c.1646T>A	NP_004013.1:p.Leu549His
NM_004023.2:c.1646T>A	NP_004014.1:p.Leu549His
XM_006724468.2:c.9026T>A	XP_006724531.1:p.Leu3009His
XM_006724469.2:c.9002T>A	XP_006724532.1:p.Leu3001His
XM_006724470.2:c.9026T>A	XP_006724533.1:p.Leu3009His
XM_006724471.2:c.9026T>A	XP_006724534.1:p.Leu3009His
XM_006724472.2:c.8897T>A	XP_006724535.1:p.Leu2966His
XM_006724473.2:c.8888T>A	XP_006724536.1:p.Leu2963His
XM_006724474.2:c.9026T>A	XP_006724537.1:p.Leu3009His
XM_006724475.2:c.9026T>A	XP_006724538.1:p.Leu3009His
XM_011545467.1:c.8903T>A	XP_011543769.1:p.Leu2968His
XM_011545468.1:c.9026T>A	XP_011543770.1:p.Leu3009His
XM_006724469.3:c.9002T>A	XP_006724532.1:p.Leu3001His
XM_006724470.3:c.9026T>A	XP_006724533.1:p.Leu3009His
XM_006724474.3:c.9026T>A	XP_006724537.1:p.Leu3009His
XM_011545468.2:c.9026T>A	XP_011543770.1:p.Leu3009His
XM_017029328.1:c.9026T>A	XP_016884817.1:p.Leu3009His
XM_017029331.1:c.3200T>A	XP_016884820.1:p.Leu1067His
NM_000109.4:c.9002T>A	NP_000100.3:p.Leu3001His
NM_004006.3:c.9026T>A MANE Select	NP_003997.2:p.Leu3009His
NM_004011.4:c.5003T>A	NP_004002.3:p.Leu1668His
NM_004012.4:c.4994T>A	NP_004003.2:p.Leu1665His
NM_004021.3:c.1646T>A	NP_004012.2:p.Leu549His
NM_004023.3:c.1646T>A	NP_004014.2:p.Leu549His
NM_004013.3:c.1646T>A	NP_004004.2:p.Leu549His
NM_004014.3:c.839T>A	NP_004005.2:p.Leu280His
NM_004020.4:c.1646T>A	NP_004011.3:p.Leu549His
NM_004022.3:c.1646T>A	NP_004013.2:p.Leu549His