Canonical Allele Identifier: CA412671652

Gene: DMD

Linked Data

• ClinVar Variation Id: 1383635
• ClinVar RCV Id: RCV001924637
• dbSNP Id: rs1057515873
• gnomAD v2: X-32382806-T-C
• gnomAD v3: X-32364689-T-C
• gnomAD v4: X-32364689-T-C
• MyVariant Identifiers: chrX:g.32382806T>C (hg19) ; chrX:g.32364689T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32364689T>C , CM000685.2:g.32364689T>C	GRCh38
NC_000023.10:g.32382806T>C , CM000685.1:g.32382806T>C	GRCh37
NC_000023.9:g.32292727T>C	NCBI36
NG_012232.1:g.979921A>G , LRG_199:g.979921A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357033.9:c.5047A>G MANE Select	ENSP00000354923.3:p.Thr1683Ala
ENST00000619831.5:c.1015A>G	ENSP00000479270.2:p.Thr339Ala
ENST00000357033.8:c.5047A>G	ENSP00000354923.3:p.Thr1683Ala
ENST00000378677.6:c.5035A>G	ENSP00000367948.2:p.Thr1679Ala
ENST00000420596.5:c.295A>G	ENSP00000399897.1:p.Thr99Ala
ENST00000448370.5:c.115A>G	ENSP00000388559.1:p.Thr39Ala
ENST00000488902.5:n.336-147626A>G
ENST00000619831.4:c.5035A>G	ENSP00000479270.1:p.Thr1679Ala
ENST00000620040.4:c.5047A>G	ENSP00000478150.1:p.Thr1683Ala
NM_000109.3:c.5023A>G	NP_000100.2:p.Thr1675Ala
NM_004006.2:c.5047A>G , LRG_199t1:c.5047A>G	NP_003997.1:p.Thr1683Ala
NM_004009.3:c.5035A>G	NP_004000.1:p.Thr1679Ala
NM_004010.3:c.4678A>G	NP_004001.1:p.Thr1560Ala
NM_004011.3:c.1024A>G	NP_004002.2:p.Thr342Ala
NM_004012.3:c.1015A>G	NP_004003.1:p.Thr339Ala
XM_006724468.2:c.5047A>G	XP_006724531.1:p.Thr1683Ala
XM_006724469.2:c.5023A>G	XP_006724532.1:p.Thr1675Ala
XM_006724470.2:c.5047A>G	XP_006724533.1:p.Thr1683Ala
XM_006724471.2:c.5047A>G	XP_006724534.1:p.Thr1683Ala
XM_006724472.2:c.4918A>G	XP_006724535.1:p.Thr1640Ala
XM_006724473.2:c.5047A>G	XP_006724536.1:p.Thr1683Ala
XM_006724474.2:c.5047A>G	XP_006724537.1:p.Thr1683Ala
XM_006724475.2:c.5047A>G	XP_006724538.1:p.Thr1683Ala
XM_011545467.1:c.5047A>G	XP_011543769.1:p.Thr1683Ala
XM_011545468.1:c.5047A>G	XP_011543770.1:p.Thr1683Ala
XM_011545469.1:c.5047A>G	XP_011543771.1:p.Thr1683Ala
XM_006724469.3:c.5023A>G	XP_006724532.1:p.Thr1675Ala
XM_006724470.3:c.5047A>G	XP_006724533.1:p.Thr1683Ala
XM_006724474.3:c.5047A>G	XP_006724537.1:p.Thr1683Ala
XM_011545468.2:c.5047A>G	XP_011543770.1:p.Thr1683Ala
XM_017029328.1:c.5047A>G	XP_016884817.1:p.Thr1683Ala
XM_017029329.1:c.5047A>G	XP_016884818.1:p.Thr1683Ala
XM_017029330.2:c.5047A>G	XP_016884819.1:p.Thr1683Ala
NM_000109.4:c.5023A>G	NP_000100.3:p.Thr1675Ala
NM_004006.3:c.5047A>G MANE Select	NP_003997.2:p.Thr1683Ala
NM_004011.4:c.1024A>G	NP_004002.3:p.Thr342Ala
NM_004012.4:c.1015A>G	NP_004003.2:p.Thr339Ala