Canonical Allele Identifier: CA515713734

Gene: DMD

Linked Data

• ClinVar Variation Id: 1662321
• ClinVar RCV Id: RCV002185646
• dbSNP Id: rs2146989560
• gnomAD v4: X-32343137-T-A
• MyVariant Identifiers: chrX:g.32361254T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343137T>A , CM000685.2:g.32343137T>A	GRCh38
NC_000023.10:g.32361254T>A , CM000685.1:g.32361254T>A	GRCh37
NC_000023.9:g.32271175T>A	NCBI36
NG_012232.1:g.1001473A>T , LRG_199:g.1001473A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.582A>T	ENSP00000350765.3:p.Ile194=
ENST00000357033.9:c.5736A>T MANE Select	ENSP00000354923.3:p.Ile1912=
ENST00000619831.5:c.1704A>T	ENSP00000479270.2:p.Ile568=
ENST00000357033.8:c.5736A>T	ENSP00000354923.3:p.Ile1912=
ENST00000378677.6:c.5724A>T	ENSP00000367948.2:p.Ile1908=
ENST00000488902.5:n.336-126074A>T
ENST00000493412.1:c.393A>T	ENSP00000417725.1:p.Ile131=
ENST00000619831.4:c.5724A>T	ENSP00000479270.1:p.Ile1908=
ENST00000620040.4:c.5736A>T	ENSP00000478150.1:p.Ile1912=
NM_000109.3:c.5712A>T	NP_000100.2:p.Ile1904=
NM_004006.2:c.5736A>T , LRG_199t1:c.5736A>T	NP_003997.1:p.Ile1912=
NM_004009.3:c.5724A>T	NP_004000.1:p.Ile1908=
NM_004010.3:c.5367A>T	NP_004001.1:p.Ile1789=
NM_004011.3:c.1713A>T	NP_004002.2:p.Ile571=
NM_004012.3:c.1704A>T	NP_004003.1:p.Ile568=
XM_006724468.2:c.5736A>T	XP_006724531.1:p.Ile1912=
XM_006724469.2:c.5712A>T	XP_006724532.1:p.Ile1904=
XM_006724470.2:c.5736A>T	XP_006724533.1:p.Ile1912=
XM_006724471.2:c.5736A>T	XP_006724534.1:p.Ile1912=
XM_006724472.2:c.5607A>T	XP_006724535.1:p.Ile1869=
XM_006724473.2:c.5598A>T	XP_006724536.1:p.Ile1866=
XM_006724474.2:c.5736A>T	XP_006724537.1:p.Ile1912=
XM_006724475.2:c.5736A>T	XP_006724538.1:p.Ile1912=
XM_011545467.1:c.5613A>T	XP_011543769.1:p.Ile1871=
XM_011545468.1:c.5736A>T	XP_011543770.1:p.Ile1912=
XM_011545469.1:c.5736A>T	XP_011543771.1:p.Ile1912=
XM_006724469.3:c.5712A>T	XP_006724532.1:p.Ile1904=
XM_006724470.3:c.5736A>T	XP_006724533.1:p.Ile1912=
XM_006724474.3:c.5736A>T	XP_006724537.1:p.Ile1912=
XM_011545468.2:c.5736A>T	XP_011543770.1:p.Ile1912=
XM_017029328.1:c.5736A>T	XP_016884817.1:p.Ile1912=
XM_017029329.1:c.5736A>T	XP_016884818.1:p.Ile1912=
XM_017029330.2:c.5736A>T	XP_016884819.1:p.Ile1912=
NM_000109.4:c.5712A>T	NP_000100.3:p.Ile1904=
NM_004006.3:c.5736A>T MANE Select	NP_003997.2:p.Ile1912=
NM_004011.4:c.1713A>T	NP_004002.3:p.Ile571=
NM_004012.4:c.1704A>T	NP_004003.2:p.Ile568=