Canonical Allele Identifier: CA412669943

Gene: DMD

Linked Data

• dbSNP Id: rs1478695865
• MyVariant Identifiers: chrX:g.32328329A>G (hg19) ; chrX:g.32310212A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32310212A>G , CM000685.2:g.32310212A>G	GRCh38
NC_000023.10:g.32328329A>G , CM000685.1:g.32328329A>G	GRCh37
NC_000023.9:g.32238250A>G	NCBI36
NG_012232.1:g.1034398T>C , LRG_199:g.1034398T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.833T>C	ENSP00000350765.3:p.Val278Ala
ENST00000357033.9:c.5987T>C MANE Select	ENSP00000354923.3:p.Val1996Ala
ENST00000619831.5:c.1955T>C	ENSP00000479270.2:p.Val652Ala
ENST00000357033.8:c.5987T>C	ENSP00000354923.3:p.Val1996Ala
ENST00000378677.6:c.5975T>C	ENSP00000367948.2:p.Val1992Ala
ENST00000488902.5:n.336-93149T>C
ENST00000619831.4:c.5975T>C	ENSP00000479270.1:p.Val1992Ala
ENST00000620040.4:c.5987T>C	ENSP00000478150.1:p.Val1996Ala
NM_000109.3:c.5963T>C	NP_000100.2:p.Val1988Ala
NM_004006.2:c.5987T>C , LRG_199t1:c.5987T>C	NP_003997.1:p.Val1996Ala
NM_004009.3:c.5975T>C	NP_004000.1:p.Val1992Ala
NM_004010.3:c.5618T>C	NP_004001.1:p.Val1873Ala
NM_004011.3:c.1964T>C	NP_004002.2:p.Val655Ala
NM_004012.3:c.1955T>C	NP_004003.1:p.Val652Ala
XM_006724468.2:c.5987T>C	XP_006724531.1:p.Val1996Ala
XM_006724469.2:c.5963T>C	XP_006724532.1:p.Val1988Ala
XM_006724470.2:c.5987T>C	XP_006724533.1:p.Val1996Ala
XM_006724471.2:c.5987T>C	XP_006724534.1:p.Val1996Ala
XM_006724472.2:c.5858T>C	XP_006724535.1:p.Val1953Ala
XM_006724473.2:c.5849T>C	XP_006724536.1:p.Val1950Ala
XM_006724474.2:c.5987T>C	XP_006724537.1:p.Val1996Ala
XM_006724475.2:c.5987T>C	XP_006724538.1:p.Val1996Ala
XM_011545467.1:c.5864T>C	XP_011543769.1:p.Val1955Ala
XM_011545468.1:c.5987T>C	XP_011543770.1:p.Val1996Ala
XM_006724469.3:c.5963T>C	XP_006724532.1:p.Val1988Ala
XM_006724470.3:c.5987T>C	XP_006724533.1:p.Val1996Ala
XM_006724474.3:c.5987T>C	XP_006724537.1:p.Val1996Ala
XM_011545468.2:c.5987T>C	XP_011543770.1:p.Val1996Ala
XM_017029328.1:c.5987T>C	XP_016884817.1:p.Val1996Ala
XM_017029329.1:c.5987T>C	XP_016884818.1:p.Val1996Ala
XM_017029330.2:c.5987T>C	XP_016884819.1:p.Val1996Ala
XM_017029331.1:c.161T>C	XP_016884820.1:p.Val54Ala
NM_000109.4:c.5963T>C	NP_000100.3:p.Val1988Ala
NM_004006.3:c.5987T>C MANE Select	NP_003997.2:p.Val1996Ala
NM_004011.4:c.1964T>C	NP_004002.3:p.Val655Ala
NM_004012.4:c.1955T>C	NP_004003.2:p.Val652Ala