Canonical Allele Identifier: CA327982263

Gene: DMD

Linked Data

• dbSNP Id: rs796291308
• gnomAD v4: X-32343243-T-G
• MyVariant Identifiers: chrX:g.32361360T>G (hg19) ; chrX:g.32343243T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343243T>G , CM000685.2:g.32343243T>G	GRCh38
NC_000023.10:g.32361360T>G , CM000685.1:g.32361360T>G	GRCh37
NC_000023.9:g.32271281T>G	NCBI36
NG_012232.1:g.1001367A>C , LRG_199:g.1001367A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.476A>C	ENSP00000350765.3:p.His159Pro
ENST00000357033.9:c.5630A>C MANE Select	ENSP00000354923.3:p.His1877Pro
ENST00000619831.5:c.1598A>C	ENSP00000479270.2:p.His533Pro
ENST00000357033.8:c.5630A>C	ENSP00000354923.3:p.His1877Pro
ENST00000378677.6:c.5618A>C	ENSP00000367948.2:p.His1873Pro
ENST00000488902.5:n.336-126180A>C
ENST00000493412.1:c.287A>C	ENSP00000417725.1:p.His96Pro
ENST00000619831.4:c.5618A>C	ENSP00000479270.1:p.His1873Pro
ENST00000620040.4:c.5630A>C	ENSP00000478150.1:p.His1877Pro
NM_000109.3:c.5606A>C	NP_000100.2:p.His1869Pro
NM_004006.2:c.5630A>C , LRG_199t1:c.5630A>C	NP_003997.1:p.His1877Pro
NM_004009.3:c.5618A>C	NP_004000.1:p.His1873Pro
NM_004010.3:c.5261A>C	NP_004001.1:p.His1754Pro
NM_004011.3:c.1607A>C	NP_004002.2:p.His536Pro
NM_004012.3:c.1598A>C	NP_004003.1:p.His533Pro
XM_006724468.2:c.5630A>C	XP_006724531.1:p.His1877Pro
XM_006724469.2:c.5606A>C	XP_006724532.1:p.His1869Pro
XM_006724470.2:c.5630A>C	XP_006724533.1:p.His1877Pro
XM_006724471.2:c.5630A>C	XP_006724534.1:p.His1877Pro
XM_006724472.2:c.5501A>C	XP_006724535.1:p.His1834Pro
XM_006724473.2:c.5492A>C	XP_006724536.1:p.His1831Pro
XM_006724474.2:c.5630A>C	XP_006724537.1:p.His1877Pro
XM_006724475.2:c.5630A>C	XP_006724538.1:p.His1877Pro
XM_011545467.1:c.5507A>C	XP_011543769.1:p.His1836Pro
XM_011545468.1:c.5630A>C	XP_011543770.1:p.His1877Pro
XM_011545469.1:c.5630A>C	XP_011543771.1:p.His1877Pro
XM_006724469.3:c.5606A>C	XP_006724532.1:p.His1869Pro
XM_006724470.3:c.5630A>C	XP_006724533.1:p.His1877Pro
XM_006724474.3:c.5630A>C	XP_006724537.1:p.His1877Pro
XM_011545468.2:c.5630A>C	XP_011543770.1:p.His1877Pro
XM_017029328.1:c.5630A>C	XP_016884817.1:p.His1877Pro
XM_017029329.1:c.5630A>C	XP_016884818.1:p.His1877Pro
XM_017029330.2:c.5630A>C	XP_016884819.1:p.His1877Pro
NM_000109.4:c.5606A>C	NP_000100.3:p.His1869Pro
NM_004006.3:c.5630A>C MANE Select	NP_003997.2:p.His1877Pro
NM_004011.4:c.1607A>C	NP_004002.3:p.His536Pro
NM_004012.4:c.1598A>C	NP_004003.2:p.His533Pro