Canonical Allele Identifier: CA10378528

Gene: DMD

Linked Data

• ClinVar Variation Id: 971319
• ClinVar RCV Id: RCV001247076
• dbSNP Id: rs749441036
• ExAC: X:32305814 A / G
• gnomAD v2: X-32305814-A-G
• gnomAD v4: X-32287697-A-G
• MyVariant Identifiers: chrX:g.32305814A>G (hg19) ; chrX:g.32287697A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287697A>G , CM000685.2:g.32287697A>G	GRCh38
NC_000023.10:g.32305814A>G , CM000685.1:g.32305814A>G	GRCh37
NC_000023.9:g.32215735A>G	NCBI36
NG_012232.1:g.1056913T>C , LRG_199:g.1056913T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.968T>C	ENSP00000350765.3:p.Ile323Thr
ENST00000357033.9:c.6122T>C MANE Select	ENSP00000354923.3:p.Ile2041Thr
ENST00000619831.5:c.2090T>C	ENSP00000479270.2:p.Ile697Thr
ENST00000357033.8:c.6122T>C	ENSP00000354923.3:p.Ile2041Thr
ENST00000378677.6:c.6110T>C	ENSP00000367948.2:p.Ile2037Thr
ENST00000488902.5:n.336-70634T>C
ENST00000619831.4:c.6110T>C	ENSP00000479270.1:p.Ile2037Thr
ENST00000620040.4:c.6122T>C	ENSP00000478150.1:p.Ile2041Thr
NM_000109.3:c.6098T>C	NP_000100.2:p.Ile2033Thr
NM_004006.2:c.6122T>C , LRG_199t1:c.6122T>C	NP_003997.1:p.Ile2041Thr
NM_004009.3:c.6110T>C	NP_004000.1:p.Ile2037Thr
NM_004010.3:c.5753T>C	NP_004001.1:p.Ile1918Thr
NM_004011.3:c.2099T>C	NP_004002.2:p.Ile700Thr
NM_004012.3:c.2090T>C	NP_004003.1:p.Ile697Thr
XM_006724468.2:c.6122T>C	XP_006724531.1:p.Ile2041Thr
XM_006724469.2:c.6098T>C	XP_006724532.1:p.Ile2033Thr
XM_006724470.2:c.6122T>C	XP_006724533.1:p.Ile2041Thr
XM_006724471.2:c.6122T>C	XP_006724534.1:p.Ile2041Thr
XM_006724472.2:c.5993T>C	XP_006724535.1:p.Ile1998Thr
XM_006724473.2:c.5984T>C	XP_006724536.1:p.Ile1995Thr
XM_006724474.2:c.6122T>C	XP_006724537.1:p.Ile2041Thr
XM_006724475.2:c.6122T>C	XP_006724538.1:p.Ile2041Thr
XM_011545467.1:c.5999T>C	XP_011543769.1:p.Ile2000Thr
XM_011545468.1:c.6122T>C	XP_011543770.1:p.Ile2041Thr
XM_006724469.3:c.6098T>C	XP_006724532.1:p.Ile2033Thr
XM_006724470.3:c.6122T>C	XP_006724533.1:p.Ile2041Thr
XM_006724474.3:c.6122T>C	XP_006724537.1:p.Ile2041Thr
XM_011545468.2:c.6122T>C	XP_011543770.1:p.Ile2041Thr
XM_017029328.1:c.6122T>C	XP_016884817.1:p.Ile2041Thr
XM_017029329.1:c.6122T>C	XP_016884818.1:p.Ile2041Thr
XM_017029330.2:c.6122T>C	XP_016884819.1:p.Ile2041Thr
XM_017029331.1:c.296T>C	XP_016884820.1:p.Ile99Thr
NM_000109.4:c.6098T>C	NP_000100.3:p.Ile2033Thr
NM_004006.3:c.6122T>C MANE Select	NP_003997.2:p.Ile2041Thr
NM_004011.4:c.2099T>C	NP_004002.3:p.Ile700Thr
NM_004012.4:c.2090T>C	NP_004003.2:p.Ile697Thr