Canonical Allele Identifier: CA515714179

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.32361398C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343281C>T , CM000685.2:g.32343281C>T	GRCh38
NC_000023.10:g.32361398C>T , CM000685.1:g.32361398C>T	GRCh37
NC_000023.9:g.32271319C>T	NCBI36
NG_012232.1:g.1001329G>A , LRG_199:g.1001329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.438G>A	ENSP00000350765.3:p.Leu146=
ENST00000357033.9:c.5592G>A MANE Select	ENSP00000354923.3:p.Leu1864=
ENST00000619831.5:c.1560G>A	ENSP00000479270.2:p.Leu520=
ENST00000357033.8:c.5592G>A	ENSP00000354923.3:p.Leu1864=
ENST00000378677.6:c.5580G>A	ENSP00000367948.2:p.Leu1860=
ENST00000488902.5:n.336-126218G>A
ENST00000493412.1:c.249G>A	ENSP00000417725.1:p.Leu83=
ENST00000619831.4:c.5580G>A	ENSP00000479270.1:p.Leu1860=
ENST00000620040.4:c.5592G>A	ENSP00000478150.1:p.Leu1864=
NM_000109.3:c.5568G>A	NP_000100.2:p.Leu1856=
NM_004006.2:c.5592G>A , LRG_199t1:c.5592G>A	NP_003997.1:p.Leu1864=
NM_004009.3:c.5580G>A	NP_004000.1:p.Leu1860=
NM_004010.3:c.5223G>A	NP_004001.1:p.Leu1741=
NM_004011.3:c.1569G>A	NP_004002.2:p.Leu523=
NM_004012.3:c.1560G>A	NP_004003.1:p.Leu520=
XM_006724468.2:c.5592G>A	XP_006724531.1:p.Leu1864=
XM_006724469.2:c.5568G>A	XP_006724532.1:p.Leu1856=
XM_006724470.2:c.5592G>A	XP_006724533.1:p.Leu1864=
XM_006724471.2:c.5592G>A	XP_006724534.1:p.Leu1864=
XM_006724472.2:c.5463G>A	XP_006724535.1:p.Leu1821=
XM_006724473.2:c.5454G>A	XP_006724536.1:p.Leu1818=
XM_006724474.2:c.5592G>A	XP_006724537.1:p.Leu1864=
XM_006724475.2:c.5592G>A	XP_006724538.1:p.Leu1864=
XM_011545467.1:c.5469G>A	XP_011543769.1:p.Leu1823=
XM_011545468.1:c.5592G>A	XP_011543770.1:p.Leu1864=
XM_011545469.1:c.5592G>A	XP_011543771.1:p.Leu1864=
XM_006724469.3:c.5568G>A	XP_006724532.1:p.Leu1856=
XM_006724470.3:c.5592G>A	XP_006724533.1:p.Leu1864=
XM_006724474.3:c.5592G>A	XP_006724537.1:p.Leu1864=
XM_011545468.2:c.5592G>A	XP_011543770.1:p.Leu1864=
XM_017029328.1:c.5592G>A	XP_016884817.1:p.Leu1864=
XM_017029329.1:c.5592G>A	XP_016884818.1:p.Leu1864=
XM_017029330.2:c.5592G>A	XP_016884819.1:p.Leu1864=
NM_000109.4:c.5568G>A	NP_000100.3:p.Leu1856=
NM_004006.3:c.5592G>A MANE Select	NP_003997.2:p.Leu1864=
NM_004011.4:c.1569G>A	NP_004002.3:p.Leu523=
NM_004012.4:c.1560G>A	NP_004003.2:p.Leu520=