Canonical Allele Identifier: CA266928

Gene: DMD

Linked Data

• ClinVar Variation Id: 94504
• ClinVar RCV Id: RCV000175441 ; RCV000723618
• dbSNP Id: rs398123883
• MyVariant Identifiers: chrX:g.32519920G>A (hg19) ; chrX:g.32501803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32501803G>A , CM000685.2:g.32501803G>A	GRCh38
NC_000023.10:g.32519920G>A , CM000685.1:g.32519920G>A	GRCh37
NC_000023.9:g.32429841G>A	NCBI36
NG_012232.1:g.842807C>T , LRG_199:g.842807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.2539C>T
ENST00000683985.1:n.2539C>T
ENST00000357033.9:c.2332C>T MANE Select	ENSP00000354923.3:p.Gln778Ter
ENST00000357033.8:c.2332C>T	ENSP00000354923.3:p.Gln778Ter
ENST00000378677.6:c.2320C>T	ENSP00000367948.2:p.Gln774Ter
ENST00000420596.5:c.94-136604C>T	ENSP00000399897.1:n.94-136604C>T
ENST00000448370.5:c.94-137093C>T	ENSP00000388559.1:n.94-137093C>T
ENST00000488902.5:n.336-284740C>T
ENST00000619831.4:c.2320C>T	ENSP00000479270.1:p.Gln774Ter
ENST00000620040.4:c.2332C>T	ENSP00000478150.1:p.Gln778Ter
NM_000109.3:c.2308C>T	NP_000100.2:p.Gln770Ter
NM_004006.2:c.2332C>T , LRG_199t1:c.2332C>T	NP_003997.1:p.Gln778Ter
NM_004009.3:c.2320C>T	NP_004000.1:p.Gln774Ter
NM_004010.3:c.1963C>T	NP_004001.1:p.Gln655Ter
XM_006724468.2:c.2332C>T	XP_006724531.1:p.Gln778Ter
XM_006724469.2:c.2308C>T	XP_006724532.1:p.Gln770Ter
XM_006724470.2:c.2332C>T	XP_006724533.1:p.Gln778Ter
XM_006724471.2:c.2332C>T	XP_006724534.1:p.Gln778Ter
XM_006724472.2:c.2203C>T	XP_006724535.1:p.Gln735Ter
XM_006724473.2:c.2332C>T	XP_006724536.1:p.Gln778Ter
XM_006724474.2:c.2332C>T	XP_006724537.1:p.Gln778Ter
XM_006724475.2:c.2332C>T	XP_006724538.1:p.Gln778Ter
XM_011545467.1:c.2332C>T	XP_011543769.1:p.Gln778Ter
XM_011545468.1:c.2332C>T	XP_011543770.1:p.Gln778Ter
XM_011545469.1:c.2332C>T	XP_011543771.1:p.Gln778Ter
XM_006724469.3:c.2308C>T	XP_006724532.1:p.Gln770Ter
XM_006724470.3:c.2332C>T	XP_006724533.1:p.Gln778Ter
XM_006724474.3:c.2332C>T	XP_006724537.1:p.Gln778Ter
XM_011545468.2:c.2332C>T	XP_011543770.1:p.Gln778Ter
XM_017029328.1:c.2332C>T	XP_016884817.1:p.Gln778Ter
XM_017029329.1:c.2332C>T	XP_016884818.1:p.Gln778Ter
XM_017029330.2:c.2332C>T	XP_016884819.1:p.Gln778Ter
NM_000109.4:c.2308C>T	NP_000100.3:p.Gln770Ter
NM_004006.3:c.2332C>T MANE Select	NP_003997.2:p.Gln778Ter