Canonical Allele Identifier: CA412666464

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.32361393G>C (hg19) ; chrX:g.32343276G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343276G>C , CM000685.2:g.32343276G>C	GRCh38
NC_000023.10:g.32361393G>C , CM000685.1:g.32361393G>C	GRCh37
NC_000023.9:g.32271314G>C	NCBI36
NG_012232.1:g.1001334C>G , LRG_199:g.1001334C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.443C>G	ENSP00000350765.3:p.Ser148Cys
ENST00000357033.9:c.5597C>G MANE Select	ENSP00000354923.3:p.Ser1866Cys
ENST00000619831.5:c.1565C>G	ENSP00000479270.2:p.Ser522Cys
ENST00000357033.8:c.5597C>G	ENSP00000354923.3:p.Ser1866Cys
ENST00000378677.6:c.5585C>G	ENSP00000367948.2:p.Ser1862Cys
ENST00000488902.5:n.336-126213C>G
ENST00000493412.1:c.254C>G	ENSP00000417725.1:p.Ser85Cys
ENST00000619831.4:c.5585C>G	ENSP00000479270.1:p.Ser1862Cys
ENST00000620040.4:c.5597C>G	ENSP00000478150.1:p.Ser1866Cys
NM_000109.3:c.5573C>G	NP_000100.2:p.Ser1858Cys
NM_004006.2:c.5597C>G , LRG_199t1:c.5597C>G	NP_003997.1:p.Ser1866Cys
NM_004009.3:c.5585C>G	NP_004000.1:p.Ser1862Cys
NM_004010.3:c.5228C>G	NP_004001.1:p.Ser1743Cys
NM_004011.3:c.1574C>G	NP_004002.2:p.Ser525Cys
NM_004012.3:c.1565C>G	NP_004003.1:p.Ser522Cys
XM_006724468.2:c.5597C>G	XP_006724531.1:p.Ser1866Cys
XM_006724469.2:c.5573C>G	XP_006724532.1:p.Ser1858Cys
XM_006724470.2:c.5597C>G	XP_006724533.1:p.Ser1866Cys
XM_006724471.2:c.5597C>G	XP_006724534.1:p.Ser1866Cys
XM_006724472.2:c.5468C>G	XP_006724535.1:p.Ser1823Cys
XM_006724473.2:c.5459C>G	XP_006724536.1:p.Ser1820Cys
XM_006724474.2:c.5597C>G	XP_006724537.1:p.Ser1866Cys
XM_006724475.2:c.5597C>G	XP_006724538.1:p.Ser1866Cys
XM_011545467.1:c.5474C>G	XP_011543769.1:p.Ser1825Cys
XM_011545468.1:c.5597C>G	XP_011543770.1:p.Ser1866Cys
XM_011545469.1:c.5597C>G	XP_011543771.1:p.Ser1866Cys
XM_006724469.3:c.5573C>G	XP_006724532.1:p.Ser1858Cys
XM_006724470.3:c.5597C>G	XP_006724533.1:p.Ser1866Cys
XM_006724474.3:c.5597C>G	XP_006724537.1:p.Ser1866Cys
XM_011545468.2:c.5597C>G	XP_011543770.1:p.Ser1866Cys
XM_017029328.1:c.5597C>G	XP_016884817.1:p.Ser1866Cys
XM_017029329.1:c.5597C>G	XP_016884818.1:p.Ser1866Cys
XM_017029330.2:c.5597C>G	XP_016884819.1:p.Ser1866Cys
NM_000109.4:c.5573C>G	NP_000100.3:p.Ser1858Cys
NM_004006.3:c.5597C>G MANE Select	NP_003997.2:p.Ser1866Cys
NM_004011.4:c.1574C>G	NP_004002.3:p.Ser525Cys
NM_004012.4:c.1565C>G	NP_004003.2:p.Ser522Cys