Canonical Allele Identifier: CA412659089

Gene: DMD

Linked Data

• ClinVar Variation Id: 2813665
• ClinVar RCV Id: RCV003622633
• dbSNP Id: rs1416125216
• gnomAD v2: X-31792255-G-A
• gnomAD v3: X-31774138-G-A
• gnomAD v4: X-31774138-G-A
• MyVariant Identifiers: chrX:g.31792255G>A (hg19) ; chrX:g.31774138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774138G>A , CM000685.2:g.31774138G>A	GRCh38
NC_000023.10:g.31792255G>A , CM000685.1:g.31792255G>A	GRCh37
NC_000023.9:g.31702176G>A	NCBI36
NG_012232.1:g.1570472C>T , LRG_199:g.1570472C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2210C>T	ENSP00000350765.3:p.Ala737Val
ENST00000682238.1:c.-17C>T	ENSP00000508124.1:n.-17C>T
ENST00000683117.1:n.1025C>T
ENST00000683450.1:n.947C>T
ENST00000683851.1:n.1025C>T
ENST00000683957.1:n.856C>T
ENST00000684130.1:c.-17C>T	ENSP00000508037.1:n.-17C>T
ENST00000357033.9:c.7364C>T MANE Select	ENSP00000354923.3:p.Ala2455Val
ENST00000619831.5:c.3332C>T	ENSP00000479270.2:p.Ala1111Val
ENST00000620040.5:c.-17C>T	ENSP00000478150.2:n.-17C>T
ENST00000680961.1:c.-17C>T	ENSP00000506386.1:n.-17C>T
ENST00000681646.1:n.1025C>T
ENST00000681839.1:c.353C>T	ENSP00000505228.1:p.Ala118Val
ENST00000357033.8:c.7364C>T	ENSP00000354923.3:p.Ala2455Val
ENST00000358062.6:c.452C>T	ENSP00000350765.2:p.Ala151Val
ENST00000359836.5:c.-17C>T	ENSP00000352894.1:n.-17C>T
ENST00000378677.6:c.7352C>T	ENSP00000367948.2:p.Ala2451Val
ENST00000378707.7:c.-17C>T	ENSP00000367979.3:n.-17C>T
ENST00000471779.1:c.121C>T	ENSP00000417075.1:n.121C>T
ENST00000474231.5:c.-17C>T	ENSP00000417123.1:n.-17C>T
ENST00000541735.5:c.-17C>T	ENSP00000444119.1:n.-17C>T
ENST00000619831.4:c.7349C>T	ENSP00000479270.1:p.Ala2450Val
ENST00000620040.4:c.7361C>T	ENSP00000478150.1:p.Ala2454Val
NM_000109.3:c.7340C>T	NP_000100.2:p.Ala2447Val
NM_004006.2:c.7364C>T , LRG_199t1:c.7364C>T	NP_003997.1:p.Ala2455Val
NM_004009.3:c.7352C>T	NP_004000.1:p.Ala2451Val
NM_004010.3:c.6995C>T	NP_004001.1:p.Ala2332Val
NM_004011.3:c.3341C>T	NP_004002.2:p.Ala1114Val
NM_004012.3:c.3332C>T	NP_004003.1:p.Ala1111Val
NM_004013.2:c.-17C>T	NP_004004.1:n.-17C>T
NM_004020.3:c.-17C>T	NP_004011.2:n.-17C>T
NM_004021.2:c.-17C>T	NP_004012.1:n.-17C>T
NM_004022.2:c.-17C>T	NP_004013.1:n.-17C>T
NM_004023.2:c.-17C>T	NP_004014.1:n.-17C>T
XM_006724468.2:c.7364C>T	XP_006724531.1:p.Ala2455Val
XM_006724469.2:c.7340C>T	XP_006724532.1:p.Ala2447Val
XM_006724470.2:c.7364C>T	XP_006724533.1:p.Ala2455Val
XM_006724471.2:c.7364C>T	XP_006724534.1:p.Ala2455Val
XM_006724472.2:c.7235C>T	XP_006724535.1:p.Ala2412Val
XM_006724473.2:c.7226C>T	XP_006724536.1:p.Ala2409Val
XM_006724474.2:c.7364C>T	XP_006724537.1:p.Ala2455Val
XM_006724475.2:c.7364C>T	XP_006724538.1:p.Ala2455Val
XM_011545467.1:c.7241C>T	XP_011543769.1:p.Ala2414Val
XM_011545468.1:c.7364C>T	XP_011543770.1:p.Ala2455Val
XM_006724469.3:c.7340C>T	XP_006724532.1:p.Ala2447Val
XM_006724470.3:c.7364C>T	XP_006724533.1:p.Ala2455Val
XM_006724474.3:c.7364C>T	XP_006724537.1:p.Ala2455Val
XM_011545468.2:c.7364C>T	XP_011543770.1:p.Ala2455Val
XM_017029328.1:c.7364C>T	XP_016884817.1:p.Ala2455Val
XM_017029331.1:c.1538C>T	XP_016884820.1:p.Ala513Val
NM_000109.4:c.7340C>T	NP_000100.3:p.Ala2447Val
NM_004006.3:c.7364C>T MANE Select	NP_003997.2:p.Ala2455Val
NM_004011.4:c.3341C>T	NP_004002.3:p.Ala1114Val
NM_004012.4:c.3332C>T	NP_004003.2:p.Ala1111Val
NM_004021.3:c.-17C>T	NP_004012.2:n.-17C>T
NM_004023.3:c.-17C>T	NP_004014.2:n.-17C>T
NM_004013.3:c.-17C>T	NP_004004.2:n.-17C>T
NM_004020.4:c.-17C>T	NP_004011.3:n.-17C>T
NM_004022.3:c.-17C>T	NP_004013.2:n.-17C>T