Canonical Allele Identifier: CA412666281

Gene: DMD

Linked Data

• ClinVar Variation Id: 846177
• ClinVar RCV Id: RCV001049417 ; RCV001832461
• dbSNP Id: rs1326979286
• gnomAD v3: X-32287646-T-C
• gnomAD v4: X-32287646-T-C
• MyVariant Identifiers: chrX:g.32305763T>C (hg19) ; chrX:g.32287646T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287646T>C , CM000685.2:g.32287646T>C	GRCh38
NC_000023.10:g.32305763T>C , CM000685.1:g.32305763T>C	GRCh37
NC_000023.9:g.32215684T>C	NCBI36
NG_012232.1:g.1056964A>G , LRG_199:g.1056964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1019A>G	ENSP00000350765.3:p.Lys340Arg
ENST00000357033.9:c.6173A>G MANE Select	ENSP00000354923.3:p.Lys2058Arg
ENST00000619831.5:c.2141A>G	ENSP00000479270.2:p.Lys714Arg
ENST00000357033.8:c.6173A>G	ENSP00000354923.3:p.Lys2058Arg
ENST00000378677.6:c.6161A>G	ENSP00000367948.2:p.Lys2054Arg
ENST00000488902.5:n.336-70583A>G
ENST00000619831.4:c.6161A>G	ENSP00000479270.1:p.Lys2054Arg
ENST00000620040.4:c.6173A>G	ENSP00000478150.1:p.Lys2058Arg
NM_000109.3:c.6149A>G	NP_000100.2:p.Lys2050Arg
NM_004006.2:c.6173A>G , LRG_199t1:c.6173A>G	NP_003997.1:p.Lys2058Arg
NM_004009.3:c.6161A>G	NP_004000.1:p.Lys2054Arg
NM_004010.3:c.5804A>G	NP_004001.1:p.Lys1935Arg
NM_004011.3:c.2150A>G	NP_004002.2:p.Lys717Arg
NM_004012.3:c.2141A>G	NP_004003.1:p.Lys714Arg
XM_006724468.2:c.6173A>G	XP_006724531.1:p.Lys2058Arg
XM_006724469.2:c.6149A>G	XP_006724532.1:p.Lys2050Arg
XM_006724470.2:c.6173A>G	XP_006724533.1:p.Lys2058Arg
XM_006724471.2:c.6173A>G	XP_006724534.1:p.Lys2058Arg
XM_006724472.2:c.6044A>G	XP_006724535.1:p.Lys2015Arg
XM_006724473.2:c.6035A>G	XP_006724536.1:p.Lys2012Arg
XM_006724474.2:c.6173A>G	XP_006724537.1:p.Lys2058Arg
XM_006724475.2:c.6173A>G	XP_006724538.1:p.Lys2058Arg
XM_011545467.1:c.6050A>G	XP_011543769.1:p.Lys2017Arg
XM_011545468.1:c.6173A>G	XP_011543770.1:p.Lys2058Arg
XM_006724469.3:c.6149A>G	XP_006724532.1:p.Lys2050Arg
XM_006724470.3:c.6173A>G	XP_006724533.1:p.Lys2058Arg
XM_006724474.3:c.6173A>G	XP_006724537.1:p.Lys2058Arg
XM_011545468.2:c.6173A>G	XP_011543770.1:p.Lys2058Arg
XM_017029328.1:c.6173A>G	XP_016884817.1:p.Lys2058Arg
XM_017029329.1:c.6173A>G	XP_016884818.1:p.Lys2058Arg
XM_017029330.2:c.6173A>G	XP_016884819.1:p.Lys2058Arg
XM_017029331.1:c.347A>G	XP_016884820.1:p.Lys116Arg
NM_000109.4:c.6149A>G	NP_000100.3:p.Lys2050Arg
NM_004006.3:c.6173A>G MANE Select	NP_003997.2:p.Lys2058Arg
NM_004011.4:c.2150A>G	NP_004002.3:p.Lys717Arg
NM_004012.4:c.2141A>G	NP_004003.2:p.Lys714Arg