Canonical Allele Identifier: CA10588768

Gene: DMD

Linked Data

• ClinVar Variation Id: 265325
• ClinVar RCV Id: RCV000256145 ; RCV001828170 ; RCV002470829
• dbSNP Id: rs886039478
• MyVariant Identifiers: chrX:g.31525572T>C (hg19) ; chrX:g.31507455T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31507455T>C , CM000685.2:g.31507455T>C	GRCh38
NC_000023.10:g.31525572T>C , CM000685.1:g.31525572T>C	GRCh37
NC_000023.9:g.31435493T>C	NCBI36
NG_012232.1:g.1837155A>G , LRG_199:g.1837155A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3064-2A>G	ENSP00000350765.3:n.3064-2A>G
ENST00000682238.1:c.838-2A>G	ENSP00000508124.1:n.838-2A>G
ENST00000683450.1:n.1683-2A>G
ENST00000683957.1:n.1710-2A>G
ENST00000684130.1:c.838-2A>G	ENSP00000508037.1:n.838-2A>G
ENST00000343523.7:c.73-2A>G	ENSP00000340057.4:n.73-2A>G
ENST00000357033.9:c.8218-2A>G MANE Select	ENSP00000354923.3:n.8218-2A>G
ENST00000619831.5:c.4186-2A>G	ENSP00000479270.2:n.4186-2A>G
ENST00000620040.5:c.838-2A>G	ENSP00000478150.2:n.838-2A>G
ENST00000680961.1:c.838-2A>G	ENSP00000506386.1:n.838-2A>G
ENST00000681646.1:n.1879-2A>G
ENST00000343523.6:c.31-2A>G	ENSP00000340057.3:n.31-2A>G
ENST00000357033.8:c.8218-2A>G	ENSP00000354923.3:n.8218-2A>G
ENST00000358062.6:c.1306-2A>G	ENSP00000350765.2:n.1306-2A>G
ENST00000359836.5:c.838-2A>G	ENSP00000352894.1:n.838-2A>G
ENST00000378677.6:c.8206-2A>G	ENSP00000367948.2:n.8206-2A>G
ENST00000378707.7:c.838-2A>G	ENSP00000367979.3:n.838-2A>G
ENST00000445312.1:n.275-2A>G
ENST00000474231.5:c.838-2A>G	ENSP00000417123.1:n.838-2A>G
ENST00000541735.5:c.838-2A>G	ENSP00000444119.1:n.838-2A>G
ENST00000619831.4:c.8203-2A>G	ENSP00000479270.1:n.8203-2A>G
ENST00000620040.4:c.8215-2A>G	ENSP00000478150.1:n.8215-2A>G
NM_000109.3:c.8194-2A>G	NP_000100.2:n.8194-2A>G
NM_004006.2:c.8218-2A>G , LRG_199t1:c.8218-2A>G	NP_003997.1:n.8218-2A>G
NM_004009.3:c.8206-2A>G	NP_004000.1:n.8206-2A>G
NM_004010.3:c.7849-2A>G	NP_004001.1:n.7849-2A>G
NM_004011.3:c.4195-2A>G	NP_004002.2:n.4195-2A>G
NM_004012.3:c.4186-2A>G	NP_004003.1:n.4186-2A>G
NM_004013.2:c.838-2A>G	NP_004004.1:n.838-2A>G
NM_004014.2:c.31-2A>G	NP_004005.1:n.31-2A>G
NM_004020.3:c.838-2A>G	NP_004011.2:n.838-2A>G
NM_004021.2:c.838-2A>G	NP_004012.1:n.838-2A>G
NM_004022.2:c.838-2A>G	NP_004013.1:n.838-2A>G
NM_004023.2:c.838-2A>G	NP_004014.1:n.838-2A>G
XM_006724468.2:c.8218-2A>G	XP_006724531.1:n.8218-2A>G
XM_006724469.2:c.8194-2A>G	XP_006724532.1:n.8194-2A>G
XM_006724470.2:c.8218-2A>G	XP_006724533.1:n.8218-2A>G
XM_006724471.2:c.8218-2A>G	XP_006724534.1:n.8218-2A>G
XM_006724472.2:c.8089-2A>G	XP_006724535.1:n.8089-2A>G
XM_006724473.2:c.8080-2A>G	XP_006724536.1:n.8080-2A>G
XM_006724474.2:c.8218-2A>G	XP_006724537.1:n.8218-2A>G
XM_006724475.2:c.8218-2A>G	XP_006724538.1:n.8218-2A>G
XM_011545467.1:c.8095-2A>G	XP_011543769.1:n.8095-2A>G
XM_011545468.1:c.8218-2A>G	XP_011543770.1:n.8218-2A>G
XM_006724469.3:c.8194-2A>G	XP_006724532.1:n.8194-2A>G
XM_006724470.3:c.8218-2A>G	XP_006724533.1:n.8218-2A>G
XM_006724474.3:c.8218-2A>G	XP_006724537.1:n.8218-2A>G
XM_011545468.2:c.8218-2A>G	XP_011543770.1:n.8218-2A>G
XM_017029328.1:c.8218-2A>G	XP_016884817.1:n.8218-2A>G
XM_017029331.1:c.2392-2A>G	XP_016884820.1:n.2392-2A>G
NM_000109.4:c.8194-2A>G	NP_000100.3:n.8194-2A>G
NM_004006.3:c.8218-2A>G MANE Select	NP_003997.2:n.8218-2A>G
NM_004011.4:c.4195-2A>G	NP_004002.3:n.4195-2A>G
NM_004012.4:c.4186-2A>G	NP_004003.2:n.4186-2A>G
NM_004021.3:c.838-2A>G	NP_004012.2:n.838-2A>G
NM_004023.3:c.838-2A>G	NP_004014.2:n.838-2A>G
NM_004013.3:c.838-2A>G	NP_004004.2:n.838-2A>G
NM_004014.3:c.31-2A>G	NP_004005.2:n.31-2A>G
NM_004020.4:c.838-2A>G	NP_004011.3:n.838-2A>G
NM_004022.3:c.838-2A>G	NP_004013.2:n.838-2A>G