Canonical Allele Identifier: CA10378923

Gene: DMD

Linked Data

• ClinVar Variation Id: 2906488
• ClinVar RCV Id: RCV003622141
• dbSNP Id: rs747357737
• ExAC: X:32404597 A / G
• gnomAD v2: X-32404597-A-G
• gnomAD v3: X-32386480-A-G
• gnomAD v4: X-32386480-A-G
• MyVariant Identifiers: chrX:g.32404597A>G (hg19) ; chrX:g.32386480A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32386480A>G , CM000685.2:g.32386480A>G	GRCh38
NC_000023.10:g.32404597A>G , CM000685.1:g.32404597A>G	GRCh37
NC_000023.9:g.32314518A>G	NCBI36
NG_012232.1:g.958130T>C , LRG_199:g.958130T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4519-15T>C MANE Select	ENSP00000354923.3:n.4519-15T>C
ENST00000619831.5:c.487-15T>C	ENSP00000479270.2:n.487-15T>C
ENST00000357033.8:c.4519-15T>C	ENSP00000354923.3:n.4519-15T>C
ENST00000378677.6:c.4507-15T>C	ENSP00000367948.2:n.4507-15T>C
ENST00000420596.5:c.94-21281T>C	ENSP00000399897.1:n.94-21281T>C
ENST00000448370.5:c.94-21770T>C	ENSP00000388559.1:n.94-21770T>C
ENST00000488902.5:n.336-169417T>C
ENST00000619831.4:c.4507-15T>C	ENSP00000479270.1:n.4507-15T>C
ENST00000620040.4:c.4519-15T>C	ENSP00000478150.1:n.4519-15T>C
NM_000109.3:c.4495-15T>C	NP_000100.2:n.4495-15T>C
NM_004006.2:c.4519-15T>C , LRG_199t1:c.4519-15T>C	NP_003997.1:n.4519-15T>C
NM_004009.3:c.4507-15T>C	NP_004000.1:n.4507-15T>C
NM_004010.3:c.4150-15T>C	NP_004001.1:n.4150-15T>C
NM_004011.3:c.496-15T>C	NP_004002.2:n.496-15T>C
NM_004012.3:c.487-15T>C	NP_004003.1:n.487-15T>C
XM_006724468.2:c.4519-15T>C	XP_006724531.1:n.4519-15T>C
XM_006724469.2:c.4495-15T>C	XP_006724532.1:n.4495-15T>C
XM_006724470.2:c.4519-15T>C	XP_006724533.1:n.4519-15T>C
XM_006724471.2:c.4519-15T>C	XP_006724534.1:n.4519-15T>C
XM_006724472.2:c.4390-15T>C	XP_006724535.1:n.4390-15T>C
XM_006724473.2:c.4519-15T>C	XP_006724536.1:n.4519-15T>C
XM_006724474.2:c.4519-15T>C	XP_006724537.1:n.4519-15T>C
XM_006724475.2:c.4519-15T>C	XP_006724538.1:n.4519-15T>C
XM_011545467.1:c.4519-15T>C	XP_011543769.1:n.4519-15T>C
XM_011545468.1:c.4519-15T>C	XP_011543770.1:n.4519-15T>C
XM_011545469.1:c.4519-15T>C	XP_011543771.1:n.4519-15T>C
XM_006724469.3:c.4495-15T>C	XP_006724532.1:n.4495-15T>C
XM_006724470.3:c.4519-15T>C	XP_006724533.1:n.4519-15T>C
XM_006724474.3:c.4519-15T>C	XP_006724537.1:n.4519-15T>C
XM_011545468.2:c.4519-15T>C	XP_011543770.1:n.4519-15T>C
XM_017029328.1:c.4519-15T>C	XP_016884817.1:n.4519-15T>C
XM_017029329.1:c.4519-15T>C	XP_016884818.1:n.4519-15T>C
XM_017029330.2:c.4519-15T>C	XP_016884819.1:n.4519-15T>C
NM_000109.4:c.4495-15T>C	NP_000100.3:n.4495-15T>C
NM_004006.3:c.4519-15T>C MANE Select	NP_003997.2:n.4519-15T>C
NM_004011.4:c.496-15T>C	NP_004002.3:n.496-15T>C
NM_004012.4:c.487-15T>C	NP_004003.2:n.487-15T>C