Canonical Allele Identifier: CA10379044

Gene: DMD

Linked Data

• ClinVar Variation Id: 290144
• ClinVar RCV Id: RCV000329931 ; RCV000726439 ; RCV001078710 ; RCV001833401 ; RCV002321964
• dbSNP Id: rs751657094
• ExAC: X:32430033 A / G
• gnomAD v2: X-32430033-A-G
• gnomAD v3: X-32411916-A-G
• gnomAD v4: X-32411916-A-G
• MyVariant Identifiers: chrX:g.32430033A>G (hg19) ; chrX:g.32411916A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32411916A>G , CM000685.2:g.32411916A>G	GRCh38
NC_000023.10:g.32430033A>G , CM000685.1:g.32430033A>G	GRCh37
NC_000023.9:g.32339954A>G	NCBI36
NG_012232.1:g.932694T>C , LRG_199:g.932694T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4072-3T>C MANE Select	ENSP00000354923.3:n.4072-3T>C
ENST00000619831.5:c.40-3T>C	ENSP00000479270.2:n.40-3T>C
ENST00000357033.8:c.4072-3T>C	ENSP00000354923.3:n.4072-3T>C
ENST00000378677.6:c.4060-3T>C	ENSP00000367948.2:n.4060-3T>C
ENST00000420596.5:c.94-46717T>C	ENSP00000399897.1:n.94-46717T>C
ENST00000448370.5:c.94-47206T>C	ENSP00000388559.1:n.94-47206T>C
ENST00000488902.5:n.336-194853T>C
ENST00000619831.4:c.4060-3T>C	ENSP00000479270.1:n.4060-3T>C
ENST00000620040.4:c.4072-3T>C	ENSP00000478150.1:n.4072-3T>C
NM_000109.3:c.4048-3T>C	NP_000100.2:n.4048-3T>C
NM_004006.2:c.4072-3T>C , LRG_199t1:c.4072-3T>C	NP_003997.1:n.4072-3T>C
NM_004009.3:c.4060-3T>C	NP_004000.1:n.4060-3T>C
NM_004010.3:c.3703-3T>C	NP_004001.1:n.3703-3T>C
NM_004011.3:c.49-3T>C	NP_004002.2:n.49-3T>C
NM_004012.3:c.40-3T>C	NP_004003.1:n.40-3T>C
XM_006724468.2:c.4072-3T>C	XP_006724531.1:n.4072-3T>C
XM_006724469.2:c.4048-3T>C	XP_006724532.1:n.4048-3T>C
XM_006724470.2:c.4072-3T>C	XP_006724533.1:n.4072-3T>C
XM_006724471.2:c.4072-3T>C	XP_006724534.1:n.4072-3T>C
XM_006724472.2:c.3943-3T>C	XP_006724535.1:n.3943-3T>C
XM_006724473.2:c.4072-3T>C	XP_006724536.1:n.4072-3T>C
XM_006724474.2:c.4072-3T>C	XP_006724537.1:n.4072-3T>C
XM_006724475.2:c.4072-3T>C	XP_006724538.1:n.4072-3T>C
XM_011545467.1:c.4072-3T>C	XP_011543769.1:n.4072-3T>C
XM_011545468.1:c.4072-3T>C	XP_011543770.1:n.4072-3T>C
XM_011545469.1:c.4072-3T>C	XP_011543771.1:n.4072-3T>C
XM_006724469.3:c.4048-3T>C	XP_006724532.1:n.4048-3T>C
XM_006724470.3:c.4072-3T>C	XP_006724533.1:n.4072-3T>C
XM_006724474.3:c.4072-3T>C	XP_006724537.1:n.4072-3T>C
XM_011545468.2:c.4072-3T>C	XP_011543770.1:n.4072-3T>C
XM_017029328.1:c.4072-3T>C	XP_016884817.1:n.4072-3T>C
XM_017029329.1:c.4072-3T>C	XP_016884818.1:n.4072-3T>C
XM_017029330.2:c.4072-3T>C	XP_016884819.1:n.4072-3T>C
NM_000109.4:c.4048-3T>C	NP_000100.3:n.4048-3T>C
NM_004006.3:c.4072-3T>C MANE Select	NP_003997.2:n.4072-3T>C
NM_004011.4:c.49-3T>C	NP_004002.3:n.49-3T>C
NM_004012.4:c.40-3T>C	NP_004003.2:n.40-3T>C