Canonical Allele Identifier: CA412658959

Gene: DMD

Linked Data

• dbSNP Id: rs2090511677
• MyVariant Identifiers: chrX:g.31792195A>T (hg19) ; chrX:g.31774078A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774078A>T , CM000685.2:g.31774078A>T	GRCh38
NC_000023.10:g.31792195A>T , CM000685.1:g.31792195A>T	GRCh37
NC_000023.9:g.31702116A>T	NCBI36
NG_012232.1:g.1570532T>A , LRG_199:g.1570532T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2270T>A	ENSP00000350765.3:p.Phe757Tyr
ENST00000682238.1:c.44T>A	ENSP00000508124.1:p.Phe15Tyr
ENST00000683117.1:n.1085T>A
ENST00000683450.1:n.1007T>A
ENST00000683851.1:n.1085T>A
ENST00000683957.1:n.916T>A
ENST00000684130.1:c.44T>A	ENSP00000508037.1:p.Phe15Tyr
ENST00000357033.9:c.7424T>A MANE Select	ENSP00000354923.3:p.Phe2475Tyr
ENST00000619831.5:c.3392T>A	ENSP00000479270.2:p.Phe1131Tyr
ENST00000620040.5:c.44T>A	ENSP00000478150.2:p.Phe15Tyr
ENST00000680961.1:c.44T>A	ENSP00000506386.1:p.Phe15Tyr
ENST00000681646.1:n.1085T>A
ENST00000681839.1:c.413T>A	ENSP00000505228.1:p.Phe138Tyr
ENST00000357033.8:c.7424T>A	ENSP00000354923.3:p.Phe2475Tyr
ENST00000358062.6:c.512T>A	ENSP00000350765.2:p.Phe171Tyr
ENST00000359836.5:c.44T>A	ENSP00000352894.1:p.Phe15Tyr
ENST00000378677.6:c.7412T>A	ENSP00000367948.2:p.Phe2471Tyr
ENST00000378707.7:c.44T>A	ENSP00000367979.3:p.Phe15Tyr
ENST00000471779.1:c.181T>A	ENSP00000417075.1:n.181T>A
ENST00000474231.5:c.44T>A	ENSP00000417123.1:p.Phe15Tyr
ENST00000541735.5:c.44T>A	ENSP00000444119.1:p.Phe15Tyr
ENST00000619831.4:c.7409T>A	ENSP00000479270.1:p.Phe2470Tyr
ENST00000620040.4:c.7421T>A	ENSP00000478150.1:p.Phe2474Tyr
NM_000109.3:c.7400T>A	NP_000100.2:p.Phe2467Tyr
NM_004006.2:c.7424T>A , LRG_199t1:c.7424T>A	NP_003997.1:p.Phe2475Tyr
NM_004009.3:c.7412T>A	NP_004000.1:p.Phe2471Tyr
NM_004010.3:c.7055T>A	NP_004001.1:p.Phe2352Tyr
NM_004011.3:c.3401T>A	NP_004002.2:p.Phe1134Tyr
NM_004012.3:c.3392T>A	NP_004003.1:p.Phe1131Tyr
NM_004013.2:c.44T>A	NP_004004.1:p.Phe15Tyr
NM_004020.3:c.44T>A	NP_004011.2:p.Phe15Tyr
NM_004021.2:c.44T>A	NP_004012.1:p.Phe15Tyr
NM_004022.2:c.44T>A	NP_004013.1:p.Phe15Tyr
NM_004023.2:c.44T>A	NP_004014.1:p.Phe15Tyr
XM_006724468.2:c.7424T>A	XP_006724531.1:p.Phe2475Tyr
XM_006724469.2:c.7400T>A	XP_006724532.1:p.Phe2467Tyr
XM_006724470.2:c.7424T>A	XP_006724533.1:p.Phe2475Tyr
XM_006724471.2:c.7424T>A	XP_006724534.1:p.Phe2475Tyr
XM_006724472.2:c.7295T>A	XP_006724535.1:p.Phe2432Tyr
XM_006724473.2:c.7286T>A	XP_006724536.1:p.Phe2429Tyr
XM_006724474.2:c.7424T>A	XP_006724537.1:p.Phe2475Tyr
XM_006724475.2:c.7424T>A	XP_006724538.1:p.Phe2475Tyr
XM_011545467.1:c.7301T>A	XP_011543769.1:p.Phe2434Tyr
XM_011545468.1:c.7424T>A	XP_011543770.1:p.Phe2475Tyr
XM_006724469.3:c.7400T>A	XP_006724532.1:p.Phe2467Tyr
XM_006724470.3:c.7424T>A	XP_006724533.1:p.Phe2475Tyr
XM_006724474.3:c.7424T>A	XP_006724537.1:p.Phe2475Tyr
XM_011545468.2:c.7424T>A	XP_011543770.1:p.Phe2475Tyr
XM_017029328.1:c.7424T>A	XP_016884817.1:p.Phe2475Tyr
XM_017029331.1:c.1598T>A	XP_016884820.1:p.Phe533Tyr
NM_000109.4:c.7400T>A	NP_000100.3:p.Phe2467Tyr
NM_004006.3:c.7424T>A MANE Select	NP_003997.2:p.Phe2475Tyr
NM_004011.4:c.3401T>A	NP_004002.3:p.Phe1134Tyr
NM_004012.4:c.3392T>A	NP_004003.2:p.Phe1131Tyr
NM_004021.3:c.44T>A	NP_004012.2:p.Phe15Tyr
NM_004023.3:c.44T>A	NP_004014.2:p.Phe15Tyr
NM_004013.3:c.44T>A	NP_004004.2:p.Phe15Tyr
NM_004020.4:c.44T>A	NP_004011.3:p.Phe15Tyr
NM_004022.3:c.44T>A	NP_004013.2:p.Phe15Tyr