Canonical Allele Identifier: CA10378499

Gene: DMD

Linked Data

• ClinVar Variation Id: 2084082
• ClinVar RCV Id: RCV002994526
• dbSNP Id: rs767212616
• ExAC: X:32305630 T / C
• gnomAD v2: X-32305630-T-C
• gnomAD v4: X-32287513-T-C
• MyVariant Identifiers: chrX:g.32305630T>C (hg19) ; chrX:g.32287513T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287513T>C , CM000685.2:g.32287513T>C	GRCh38
NC_000023.10:g.32305630T>C , CM000685.1:g.32305630T>C	GRCh37
NC_000023.9:g.32215551T>C	NCBI36
NG_012232.1:g.1057097A>G , LRG_199:g.1057097A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.1136+16A>G	ENSP00000350765.3:n.1136+16A>G
ENST00000357033.9:c.6290+16A>G MANE Select	ENSP00000354923.3:n.6290+16A>G
ENST00000619831.5:c.2258+16A>G	ENSP00000479270.2:n.2258+16A>G
ENST00000357033.8:c.6290+16A>G	ENSP00000354923.3:n.6290+16A>G
ENST00000378677.6:c.6278+16A>G	ENSP00000367948.2:n.6278+16A>G
ENST00000488902.5:n.336-70450A>G
ENST00000619831.4:c.6278+16A>G	ENSP00000479270.1:n.6278+16A>G
ENST00000620040.4:c.6290+16A>G	ENSP00000478150.1:n.6290+16A>G
NM_000109.3:c.6266+16A>G	NP_000100.2:n.6266+16A>G
NM_004006.2:c.6290+16A>G , LRG_199t1:c.6290+16A>G	NP_003997.1:n.6290+16A>G
NM_004009.3:c.6278+16A>G	NP_004000.1:n.6278+16A>G
NM_004010.3:c.5921+16A>G	NP_004001.1:n.5921+16A>G
NM_004011.3:c.2267+16A>G	NP_004002.2:n.2267+16A>G
NM_004012.3:c.2258+16A>G	NP_004003.1:n.2258+16A>G
XM_006724468.2:c.6290+16A>G	XP_006724531.1:n.6290+16A>G
XM_006724469.2:c.6266+16A>G	XP_006724532.1:n.6266+16A>G
XM_006724470.2:c.6290+16A>G	XP_006724533.1:n.6290+16A>G
XM_006724471.2:c.6290+16A>G	XP_006724534.1:n.6290+16A>G
XM_006724472.2:c.6161+16A>G	XP_006724535.1:n.6161+16A>G
XM_006724473.2:c.6152+16A>G	XP_006724536.1:n.6152+16A>G
XM_006724474.2:c.6290+16A>G	XP_006724537.1:n.6290+16A>G
XM_006724475.2:c.6290+16A>G	XP_006724538.1:n.6290+16A>G
XM_011545467.1:c.6167+16A>G	XP_011543769.1:n.6167+16A>G
XM_011545468.1:c.6290+16A>G	XP_011543770.1:n.6290+16A>G
XM_006724469.3:c.6266+16A>G	XP_006724532.1:n.6266+16A>G
XM_006724470.3:c.6290+16A>G	XP_006724533.1:n.6290+16A>G
XM_006724474.3:c.6290+16A>G	XP_006724537.1:n.6290+16A>G
XM_011545468.2:c.6290+16A>G	XP_011543770.1:n.6290+16A>G
XM_017029328.1:c.6290+16A>G	XP_016884817.1:n.6290+16A>G
XM_017029329.1:c.6290+16A>G	XP_016884818.1:n.6290+16A>G
XM_017029330.2:c.6290+16A>G	XP_016884819.1:n.6290+16A>G
XM_017029331.1:c.464+16A>G	XP_016884820.1:n.464+16A>G
NM_000109.4:c.6266+16A>G	NP_000100.3:n.6266+16A>G
NM_004006.3:c.6290+16A>G MANE Select	NP_003997.2:n.6290+16A>G
NM_004011.4:c.2267+16A>G	NP_004002.3:n.2267+16A>G
NM_004012.4:c.2258+16A>G	NP_004003.2:n.2258+16A>G