Canonical Allele Identifier: CA16608896

Gene: DMD

Linked Data

• ClinVar Variation Id: 393178
• ClinVar RCV Id: RCV000431150
• dbSNP Id: rs1057524825
• MyVariant Identifiers: chrX:g.32360267C>A (hg19) ; chrX:g.32342150C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32342150C>A , CM000685.2:g.32342150C>A	GRCh38
NC_000023.10:g.32360267C>A , CM000685.1:g.32360267C>A	GRCh37
NC_000023.9:g.32270188C>A	NCBI36
NG_012232.1:g.1002460G>T , LRG_199:g.1002460G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.718G>T	ENSP00000350765.3:p.Glu240Ter
ENST00000357033.9:c.5872G>T MANE Select	ENSP00000354923.3:p.Glu1958Ter
ENST00000619831.5:c.1840G>T	ENSP00000479270.2:p.Glu614Ter
ENST00000357033.8:c.5872G>T	ENSP00000354923.3:p.Glu1958Ter
ENST00000378677.6:c.5860G>T	ENSP00000367948.2:p.Glu1954Ter
ENST00000488902.5:n.336-125087G>T
ENST00000619831.4:c.5860G>T	ENSP00000479270.1:p.Glu1954Ter
ENST00000620040.4:c.5872G>T	ENSP00000478150.1:p.Glu1958Ter
NM_000109.3:c.5848G>T	NP_000100.2:p.Glu1950Ter
NM_004006.2:c.5872G>T , LRG_199t1:c.5872G>T	NP_003997.1:p.Glu1958Ter
NM_004009.3:c.5860G>T	NP_004000.1:p.Glu1954Ter
NM_004010.3:c.5503G>T	NP_004001.1:p.Glu1835Ter
NM_004011.3:c.1849G>T	NP_004002.2:p.Glu617Ter
NM_004012.3:c.1840G>T	NP_004003.1:p.Glu614Ter
XM_006724468.2:c.5872G>T	XP_006724531.1:p.Glu1958Ter
XM_006724469.2:c.5848G>T	XP_006724532.1:p.Glu1950Ter
XM_006724470.2:c.5872G>T	XP_006724533.1:p.Glu1958Ter
XM_006724471.2:c.5872G>T	XP_006724534.1:p.Glu1958Ter
XM_006724472.2:c.5743G>T	XP_006724535.1:p.Glu1915Ter
XM_006724473.2:c.5734G>T	XP_006724536.1:p.Glu1912Ter
XM_006724474.2:c.5872G>T	XP_006724537.1:p.Glu1958Ter
XM_006724475.2:c.5872G>T	XP_006724538.1:p.Glu1958Ter
XM_011545467.1:c.5749G>T	XP_011543769.1:p.Glu1917Ter
XM_011545468.1:c.5872G>T	XP_011543770.1:p.Glu1958Ter
XM_006724469.3:c.5848G>T	XP_006724532.1:p.Glu1950Ter
XM_006724470.3:c.5872G>T	XP_006724533.1:p.Glu1958Ter
XM_006724474.3:c.5872G>T	XP_006724537.1:p.Glu1958Ter
XM_011545468.2:c.5872G>T	XP_011543770.1:p.Glu1958Ter
XM_017029328.1:c.5872G>T	XP_016884817.1:p.Glu1958Ter
XM_017029329.1:c.5872G>T	XP_016884818.1:p.Glu1958Ter
XM_017029330.2:c.5872G>T	XP_016884819.1:p.Glu1958Ter
XM_017029331.1:c.46G>T	XP_016884820.1:p.Glu16Ter
NM_000109.4:c.5848G>T	NP_000100.3:p.Glu1950Ter
NM_004006.3:c.5872G>T MANE Select	NP_003997.2:p.Glu1958Ter
NM_004011.4:c.1849G>T	NP_004002.3:p.Glu617Ter
NM_004012.4:c.1840G>T	NP_004003.2:p.Glu614Ter