Canonical Allele Identifier: CA10380021

Gene: DMD

Linked Data

• ClinVar Variation Id: 507110
• ClinVar RCV Id: RCV000602771 ; RCV001168122 ; RCV001829718 ; RCV002529409
• dbSNP Id: rs765986138
• ExAC: X:32715991 G / A
• gnomAD v2: X-32715991-G-A
• gnomAD v4: X-32697874-G-A
• MyVariant Identifiers: chrX:g.32715991G>A (hg19) ; chrX:g.32697874G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32697874G>A , CM000685.2:g.32697874G>A	GRCh38
NC_000023.10:g.32715991G>A , CM000685.1:g.32715991G>A	GRCh37
NC_000023.9:g.32625912G>A	NCBI36
NG_012232.1:g.646736C>T , LRG_199:g.646736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682071.1:c.587C>T	ENSP00000508133.1:p.Ser196Leu
ENST00000682870.1:n.1141C>T
ENST00000682899.1:n.1163C>T
ENST00000682924.1:c.956C>T	ENSP00000508187.1:p.Ser319Leu
ENST00000683985.1:n.1163C>T
ENST00000684165.1:n.1163C>T
ENST00000684237.1:c.831+1238C>T	ENSP00000507277.1:n.831+1238C>T
ENST00000684292.1:n.1163C>T
ENST00000288447.9:c.932C>T	ENSP00000288447.4:p.Ser311Leu
ENST00000357033.9:c.956C>T MANE Select	ENSP00000354923.3:p.Ser319Leu
ENST00000288447.8:c.932C>T	ENSP00000288447.4:p.Ser311Leu
ENST00000357033.8:c.956C>T	ENSP00000354923.3:p.Ser319Leu
ENST00000378677.6:c.944C>T	ENSP00000367948.2:p.Ser315Leu
ENST00000420596.5:c.93+322265C>T	ENSP00000399897.1:n.93+322265C>T
ENST00000447523.1:c.247-124028C>T	ENSP00000395904.1:n.247-124028C>T
ENST00000448370.5:c.93+322265C>T	ENSP00000388559.1:n.93+322265C>T
ENST00000480751.1:n.86+118594C>T
ENST00000488902.5:n.335+322265C>T
ENST00000619831.4:c.944C>T	ENSP00000479270.1:p.Ser315Leu
ENST00000620040.4:c.956C>T	ENSP00000478150.1:p.Ser319Leu
NM_000109.3:c.932C>T	NP_000100.2:p.Ser311Leu
NM_004006.2:c.956C>T , LRG_199t1:c.956C>T	NP_003997.1:p.Ser319Leu
NM_004009.3:c.944C>T	NP_004000.1:p.Ser315Leu
NM_004010.3:c.587C>T	NP_004001.1:p.Ser196Leu
XM_006724468.2:c.956C>T	XP_006724531.1:p.Ser319Leu
XM_006724469.2:c.932C>T	XP_006724532.1:p.Ser311Leu
XM_006724470.2:c.956C>T	XP_006724533.1:p.Ser319Leu
XM_006724471.2:c.956C>T	XP_006724534.1:p.Ser319Leu
XM_006724472.2:c.831+1238C>T	XP_006724535.1:n.831+1238C>T
XM_006724473.2:c.956C>T	XP_006724536.1:p.Ser319Leu
XM_006724474.2:c.956C>T	XP_006724537.1:p.Ser319Leu
XM_006724475.2:c.956C>T	XP_006724538.1:p.Ser319Leu
XM_011545467.1:c.956C>T	XP_011543769.1:p.Ser319Leu
XM_011545468.1:c.956C>T	XP_011543770.1:p.Ser319Leu
XM_011545469.1:c.956C>T	XP_011543771.1:p.Ser319Leu
XM_006724469.3:c.932C>T	XP_006724532.1:p.Ser311Leu
XM_006724470.3:c.956C>T	XP_006724533.1:p.Ser319Leu
XM_006724474.3:c.956C>T	XP_006724537.1:p.Ser319Leu
XM_011545468.2:c.956C>T	XP_011543770.1:p.Ser319Leu
XM_017029328.1:c.956C>T	XP_016884817.1:p.Ser319Leu
XM_017029329.1:c.956C>T	XP_016884818.1:p.Ser319Leu
XM_017029330.2:c.956C>T	XP_016884819.1:p.Ser319Leu
NM_000109.4:c.932C>T	NP_000100.3:p.Ser311Leu
NM_004006.3:c.956C>T MANE Select	NP_003997.2:p.Ser319Leu