Canonical Allele Identifier: CA412655700

Gene: DMD

Linked Data

• ClinVar Variation Id: 439613
• ClinVar RCV Id: RCV000507655 ; RCV000546844
• dbSNP Id: rs1556665303
• gnomAD v4: X-31496946-T-C
• MyVariant Identifiers: chrX:g.31515063T>C (hg19) ; chrX:g.31496946T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31496946T>C , CM000685.2:g.31496946T>C	GRCh38
NC_000023.10:g.31515063T>C , CM000685.1:g.31515063T>C	GRCh37
NC_000023.9:g.31424984T>C	NCBI36
NG_012232.1:g.1847664A>G , LRG_199:g.1847664A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3237-2A>G	ENSP00000350765.3:n.3237-2A>G
ENST00000682238.1:c.1011-2A>G	ENSP00000508124.1:n.1011-2A>G
ENST00000683450.1:n.1856-2A>G
ENST00000683957.1:n.1883-2A>G
ENST00000684130.1:c.1011-2A>G	ENSP00000508037.1:n.1011-2A>G
ENST00000343523.7:c.246-2A>G	ENSP00000340057.4:n.246-2A>G
ENST00000357033.9:c.8391-2A>G MANE Select	ENSP00000354923.3:n.8391-2A>G
ENST00000619831.5:c.4359-2A>G	ENSP00000479270.2:n.4359-2A>G
ENST00000620040.5:c.1011-2A>G	ENSP00000478150.2:n.1011-2A>G
ENST00000680961.1:c.1011-2A>G	ENSP00000506386.1:n.1011-2A>G
ENST00000681646.1:n.2052-2A>G
ENST00000343523.6:c.204-2A>G	ENSP00000340057.3:n.204-2A>G
ENST00000357033.8:c.8391-2A>G	ENSP00000354923.3:n.8391-2A>G
ENST00000358062.6:c.1479-2A>G	ENSP00000350765.2:n.1479-2A>G
ENST00000359836.5:c.1011-2A>G	ENSP00000352894.1:n.1011-2A>G
ENST00000378677.6:c.8379-2A>G	ENSP00000367948.2:n.8379-2A>G
ENST00000378707.7:c.1011-2A>G	ENSP00000367979.3:n.1011-2A>G
ENST00000445312.1:n.448-2A>G
ENST00000474231.5:c.1011-2A>G	ENSP00000417123.1:n.1011-2A>G
ENST00000541735.5:c.1011-2A>G	ENSP00000444119.1:n.1011-2A>G
ENST00000619831.4:c.8376-2A>G	ENSP00000479270.1:n.8376-2A>G
ENST00000620040.4:c.8388-2A>G	ENSP00000478150.1:n.8388-2A>G
NM_000109.3:c.8367-2A>G	NP_000100.2:n.8367-2A>G
NM_004006.2:c.8391-2A>G , LRG_199t1:c.8391-2A>G	NP_003997.1:n.8391-2A>G
NM_004009.3:c.8379-2A>G	NP_004000.1:n.8379-2A>G
NM_004010.3:c.8022-2A>G	NP_004001.1:n.8022-2A>G
NM_004011.3:c.4368-2A>G	NP_004002.2:n.4368-2A>G
NM_004012.3:c.4359-2A>G	NP_004003.1:n.4359-2A>G
NM_004013.2:c.1011-2A>G	NP_004004.1:n.1011-2A>G
NM_004014.2:c.204-2A>G	NP_004005.1:n.204-2A>G
NM_004020.3:c.1011-2A>G	NP_004011.2:n.1011-2A>G
NM_004021.2:c.1011-2A>G	NP_004012.1:n.1011-2A>G
NM_004022.2:c.1011-2A>G	NP_004013.1:n.1011-2A>G
NM_004023.2:c.1011-2A>G	NP_004014.1:n.1011-2A>G
XM_006724468.2:c.8391-2A>G	XP_006724531.1:n.8391-2A>G
XM_006724469.2:c.8367-2A>G	XP_006724532.1:n.8367-2A>G
XM_006724470.2:c.8391-2A>G	XP_006724533.1:n.8391-2A>G
XM_006724471.2:c.8391-2A>G	XP_006724534.1:n.8391-2A>G
XM_006724472.2:c.8262-2A>G	XP_006724535.1:n.8262-2A>G
XM_006724473.2:c.8253-2A>G	XP_006724536.1:n.8253-2A>G
XM_006724474.2:c.8391-2A>G	XP_006724537.1:n.8391-2A>G
XM_006724475.2:c.8391-2A>G	XP_006724538.1:n.8391-2A>G
XM_011545467.1:c.8268-2A>G	XP_011543769.1:n.8268-2A>G
XM_011545468.1:c.8391-2A>G	XP_011543770.1:n.8391-2A>G
XM_006724469.3:c.8367-2A>G	XP_006724532.1:n.8367-2A>G
XM_006724470.3:c.8391-2A>G	XP_006724533.1:n.8391-2A>G
XM_006724474.3:c.8391-2A>G	XP_006724537.1:n.8391-2A>G
XM_011545468.2:c.8391-2A>G	XP_011543770.1:n.8391-2A>G
XM_017029328.1:c.8391-2A>G	XP_016884817.1:n.8391-2A>G
XM_017029331.1:c.2565-2A>G	XP_016884820.1:n.2565-2A>G
NM_000109.4:c.8367-2A>G	NP_000100.3:n.8367-2A>G
NM_004006.3:c.8391-2A>G MANE Select	NP_003997.2:n.8391-2A>G
NM_004011.4:c.4368-2A>G	NP_004002.3:n.4368-2A>G
NM_004012.4:c.4359-2A>G	NP_004003.2:n.4359-2A>G
NM_004021.3:c.1011-2A>G	NP_004012.2:n.1011-2A>G
NM_004023.3:c.1011-2A>G	NP_004014.2:n.1011-2A>G
NM_004013.3:c.1011-2A>G	NP_004004.2:n.1011-2A>G
NM_004014.3:c.204-2A>G	NP_004005.2:n.204-2A>G
NM_004020.4:c.1011-2A>G	NP_004011.3:n.1011-2A>G
NM_004022.3:c.1011-2A>G	NP_004013.2:n.1011-2A>G