Canonical Allele Identifier: CA412675143

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.33229417C>A (hg19) ; chrX:g.33211300C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.33211300C>A , CM000685.2:g.33211300C>A	GRCh38
NC_000023.10:g.33229417C>A , CM000685.1:g.33229417C>A	GRCh37
NC_000023.9:g.33139338C>A	NCBI36
NG_012232.1:g.133310G>T , LRG_199:g.133310G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463609.2:n.197G>T
ENST00000682071.1:c.-519G>T	ENSP00000508133.1:n.-519G>T
ENST00000682307.1:n.197G>T
ENST00000682437.1:n.197G>T
ENST00000682439.1:n.197G>T
ENST00000682584.1:n.197G>T
ENST00000682870.1:n.198G>T
ENST00000682899.1:n.220G>T
ENST00000682924.1:c.13G>T	ENSP00000508187.1:p.Glu5Ter
ENST00000683309.1:n.197G>T
ENST00000683658.1:n.196G>T
ENST00000683985.1:n.220G>T
ENST00000684056.1:n.197G>T
ENST00000684165.1:n.220G>T
ENST00000684237.1:c.13G>T	ENSP00000507277.1:p.Glu5Ter
ENST00000684292.1:n.220G>T
ENST00000684357.1:n.197G>T
ENST00000684660.1:n.198G>T
ENST00000288447.9:c.7+127959G>T	ENSP00000288447.4:n.7+127959G>T
ENST00000357033.9:c.13G>T MANE Select	ENSP00000354923.3:p.Glu5Ter
ENST00000288447.8:c.7+127959G>T	ENSP00000288447.4:n.7+127959G>T
ENST00000357033.8:c.13G>T	ENSP00000354923.3:p.Glu5Ter
ENST00000420596.5:c.13G>T	ENSP00000399897.1:p.Glu5Ter
ENST00000448370.5:c.13G>T	ENSP00000388559.1:p.Glu5Ter
ENST00000463609.1:n.133G>T
ENST00000488902.5:n.255G>T
ENST00000620040.4:c.13G>T	ENSP00000478150.1:p.Glu5Ter
NM_000109.3:c.7+127959G>T	NP_000100.2:n.7+127959G>T
NM_004006.2:c.13G>T , LRG_199t1:c.13G>T	NP_003997.1:p.Glu5Ter
XM_006724468.2:c.13G>T	XP_006724531.1:p.Glu5Ter
XM_006724469.2:c.7+127959G>T	XP_006724532.1:n.7+127959G>T
XM_006724470.2:c.13G>T	XP_006724533.1:p.Glu5Ter
XM_006724471.2:c.13G>T	XP_006724534.1:p.Glu5Ter
XM_006724472.2:c.13G>T	XP_006724535.1:p.Glu5Ter
XM_006724473.2:c.13G>T	XP_006724536.1:p.Glu5Ter
XM_006724474.2:c.13G>T	XP_006724537.1:p.Glu5Ter
XM_006724475.2:c.13G>T	XP_006724538.1:p.Glu5Ter
XM_011545467.1:c.13G>T	XP_011543769.1:p.Glu5Ter
XM_011545468.1:c.13G>T	XP_011543770.1:p.Glu5Ter
XM_011545469.1:c.13G>T	XP_011543771.1:p.Glu5Ter
XM_006724469.3:c.7+127959G>T	XP_006724532.1:n.7+127959G>T
XM_006724470.3:c.13G>T	XP_006724533.1:p.Glu5Ter
XM_006724474.3:c.13G>T	XP_006724537.1:p.Glu5Ter
XM_011545468.2:c.13G>T	XP_011543770.1:p.Glu5Ter
XM_017029328.1:c.13G>T	XP_016884817.1:p.Glu5Ter
XM_017029329.1:c.13G>T	XP_016884818.1:p.Glu5Ter
XM_017029330.2:c.13G>T	XP_016884819.1:p.Glu5Ter
NM_000109.4:c.7+127959G>T	NP_000100.3:n.7+127959G>T
NM_004006.3:c.13G>T MANE Select	NP_003997.2:p.Glu5Ter