Canonical Allele Identifier: CA16616680

Gene: DMD

Linked Data

• ClinVar Variation Id: 415870
• ClinVar RCV Id: RCV000729142 ; RCV001084460 ; RCV001828492
• dbSNP Id: rs72468632
• gnomAD v3: X-32364696-G-A
• gnomAD v4: X-32364696-G-A
• MyVariant Identifiers: chrX:g.32382813G>A (hg19) ; chrX:g.32364696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32364696G>A , CM000685.2:g.32364696G>A	GRCh38
NC_000023.10:g.32382813G>A , CM000685.1:g.32382813G>A	GRCh37
NC_000023.9:g.32292734G>A	NCBI36
NG_012232.1:g.979914C>T , LRG_199:g.979914C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357033.9:c.5040C>T MANE Select	ENSP00000354923.3:p.His1680=
ENST00000619831.5:c.1008C>T	ENSP00000479270.2:p.His336=
ENST00000357033.8:c.5040C>T	ENSP00000354923.3:p.His1680=
ENST00000378677.6:c.5028C>T	ENSP00000367948.2:p.His1676=
ENST00000420596.5:c.288C>T	ENSP00000399897.1:p.His96=
ENST00000448370.5:c.108C>T	ENSP00000388559.1:p.His36=
ENST00000488902.5:n.336-147633C>T
ENST00000619831.4:c.5028C>T	ENSP00000479270.1:p.His1676=
ENST00000620040.4:c.5040C>T	ENSP00000478150.1:p.His1680=
NM_000109.3:c.5016C>T	NP_000100.2:p.His1672=
NM_004006.2:c.5040C>T , LRG_199t1:c.5040C>T	NP_003997.1:p.His1680=
NM_004009.3:c.5028C>T	NP_004000.1:p.His1676=
NM_004010.3:c.4671C>T	NP_004001.1:p.His1557=
NM_004011.3:c.1017C>T	NP_004002.2:p.His339=
NM_004012.3:c.1008C>T	NP_004003.1:p.His336=
XM_006724468.2:c.5040C>T	XP_006724531.1:p.His1680=
XM_006724469.2:c.5016C>T	XP_006724532.1:p.His1672=
XM_006724470.2:c.5040C>T	XP_006724533.1:p.His1680=
XM_006724471.2:c.5040C>T	XP_006724534.1:p.His1680=
XM_006724472.2:c.4911C>T	XP_006724535.1:p.His1637=
XM_006724473.2:c.5040C>T	XP_006724536.1:p.His1680=
XM_006724474.2:c.5040C>T	XP_006724537.1:p.His1680=
XM_006724475.2:c.5040C>T	XP_006724538.1:p.His1680=
XM_011545467.1:c.5040C>T	XP_011543769.1:p.His1680=
XM_011545468.1:c.5040C>T	XP_011543770.1:p.His1680=
XM_011545469.1:c.5040C>T	XP_011543771.1:p.His1680=
XM_006724469.3:c.5016C>T	XP_006724532.1:p.His1672=
XM_006724470.3:c.5040C>T	XP_006724533.1:p.His1680=
XM_006724474.3:c.5040C>T	XP_006724537.1:p.His1680=
XM_011545468.2:c.5040C>T	XP_011543770.1:p.His1680=
XM_017029328.1:c.5040C>T	XP_016884817.1:p.His1680=
XM_017029329.1:c.5040C>T	XP_016884818.1:p.His1680=
XM_017029330.2:c.5040C>T	XP_016884819.1:p.His1680=
NM_000109.4:c.5016C>T	NP_000100.3:p.His1672=
NM_004006.3:c.5040C>T MANE Select	NP_003997.2:p.His1680=
NM_004011.4:c.1017C>T	NP_004002.3:p.His339=
NM_004012.4:c.1008C>T	NP_004003.2:p.His336=