Canonical Allele Identifier: CA515863247

Gene: DMD

Linked Data

• ClinVar Variation Id: 1611210
• ClinVar RCV Id: RCV002165956
• dbSNP Id: rs2148595676
• gnomAD v4: X-32310187-G-T
• MyVariant Identifiers: chrX:g.32328304G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32310187G>T , CM000685.2:g.32310187G>T	GRCh38
NC_000023.10:g.32328304G>T , CM000685.1:g.32328304G>T	GRCh37
NC_000023.9:g.32238225G>T	NCBI36
NG_012232.1:g.1034423C>A , LRG_199:g.1034423C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.858C>A	ENSP00000350765.3:p.Ile286=
ENST00000357033.9:c.6012C>A MANE Select	ENSP00000354923.3:p.Ile2004=
ENST00000619831.5:c.1980C>A	ENSP00000479270.2:p.Ile660=
ENST00000357033.8:c.6012C>A	ENSP00000354923.3:p.Ile2004=
ENST00000378677.6:c.6000C>A	ENSP00000367948.2:p.Ile2000=
ENST00000488902.5:n.336-93124C>A
ENST00000619831.4:c.6000C>A	ENSP00000479270.1:p.Ile2000=
ENST00000620040.4:c.6012C>A	ENSP00000478150.1:p.Ile2004=
NM_000109.3:c.5988C>A	NP_000100.2:p.Ile1996=
NM_004006.2:c.6012C>A , LRG_199t1:c.6012C>A	NP_003997.1:p.Ile2004=
NM_004009.3:c.6000C>A	NP_004000.1:p.Ile2000=
NM_004010.3:c.5643C>A	NP_004001.1:p.Ile1881=
NM_004011.3:c.1989C>A	NP_004002.2:p.Ile663=
NM_004012.3:c.1980C>A	NP_004003.1:p.Ile660=
XM_006724468.2:c.6012C>A	XP_006724531.1:p.Ile2004=
XM_006724469.2:c.5988C>A	XP_006724532.1:p.Ile1996=
XM_006724470.2:c.6012C>A	XP_006724533.1:p.Ile2004=
XM_006724471.2:c.6012C>A	XP_006724534.1:p.Ile2004=
XM_006724472.2:c.5883C>A	XP_006724535.1:p.Ile1961=
XM_006724473.2:c.5874C>A	XP_006724536.1:p.Ile1958=
XM_006724474.2:c.6012C>A	XP_006724537.1:p.Ile2004=
XM_006724475.2:c.6012C>A	XP_006724538.1:p.Ile2004=
XM_011545467.1:c.5889C>A	XP_011543769.1:p.Ile1963=
XM_011545468.1:c.6012C>A	XP_011543770.1:p.Ile2004=
XM_006724469.3:c.5988C>A	XP_006724532.1:p.Ile1996=
XM_006724470.3:c.6012C>A	XP_006724533.1:p.Ile2004=
XM_006724474.3:c.6012C>A	XP_006724537.1:p.Ile2004=
XM_011545468.2:c.6012C>A	XP_011543770.1:p.Ile2004=
XM_017029328.1:c.6012C>A	XP_016884817.1:p.Ile2004=
XM_017029329.1:c.6012C>A	XP_016884818.1:p.Ile2004=
XM_017029330.2:c.6012C>A	XP_016884819.1:p.Ile2004=
XM_017029331.1:c.186C>A	XP_016884820.1:p.Ile62=
NM_000109.4:c.5988C>A	NP_000100.3:p.Ile1996=
NM_004006.3:c.6012C>A MANE Select	NP_003997.2:p.Ile2004=
NM_004011.4:c.1989C>A	NP_004002.3:p.Ile663=
NM_004012.4:c.1980C>A	NP_004003.2:p.Ile660=