Canonical Allele Identifier: CA266984

Gene: DMD

Linked Data

• ClinVar Variation Id: 94554
• ClinVar RCV Id: RCV000080542 ; RCV000183396 ; RCV000808328 ; RCV001831841 ; RCV002321576
• dbSNP Id: rs398123923
• gnomAD v4: X-33211281-C-A
• MyVariant Identifiers: chrX:g.33229398C>A (hg19) ; chrX:g.33211281C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.33211281C>A , CM000685.2:g.33211281C>A	GRCh38
NC_000023.10:g.33229398C>A , CM000685.1:g.33229398C>A	GRCh37
NC_000023.9:g.33139319C>A	NCBI36
NG_012232.1:g.133329G>T , LRG_199:g.133329G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463609.2:n.215+1G>T
ENST00000682071.1:c.-501+1G>T	ENSP00000508133.1:n.-501+1G>T
ENST00000682307.1:n.215+1G>T
ENST00000682437.1:n.215+1G>T
ENST00000682439.1:n.215+1G>T
ENST00000682584.1:n.215+1G>T
ENST00000682870.1:n.216+1G>T
ENST00000682899.1:n.238+1G>T
ENST00000682924.1:c.31+1G>T	ENSP00000508187.1:n.31+1G>T
ENST00000683309.1:n.215+1G>T
ENST00000683658.1:n.214+1G>T
ENST00000683985.1:n.238+1G>T
ENST00000684056.1:n.215+1G>T
ENST00000684165.1:n.238+1G>T
ENST00000684237.1:c.31+1G>T	ENSP00000507277.1:n.31+1G>T
ENST00000684292.1:n.238+1G>T
ENST00000684357.1:n.215+1G>T
ENST00000684660.1:n.216+1G>T
ENST00000288447.9:c.7+127978G>T	ENSP00000288447.4:n.7+127978G>T
ENST00000357033.9:c.31+1G>T MANE Select	ENSP00000354923.3:n.31+1G>T
ENST00000288447.8:c.7+127978G>T	ENSP00000288447.4:n.7+127978G>T
ENST00000357033.8:c.31+1G>T	ENSP00000354923.3:n.31+1G>T
ENST00000420596.5:c.31+1G>T	ENSP00000399897.1:n.31+1G>T
ENST00000448370.5:c.31+1G>T	ENSP00000388559.1:n.31+1G>T
ENST00000463609.1:n.151+1G>T
ENST00000488902.5:n.273+1G>T
ENST00000620040.4:c.31+1G>T	ENSP00000478150.1:n.31+1G>T
NM_000109.3:c.7+127978G>T	NP_000100.2:n.7+127978G>T
NM_004006.2:c.31+1G>T , LRG_199t1:c.31+1G>T	NP_003997.1:n.31+1G>T
XM_006724468.2:c.31+1G>T	XP_006724531.1:n.31+1G>T
XM_006724469.2:c.7+127978G>T	XP_006724532.1:n.7+127978G>T
XM_006724470.2:c.31+1G>T	XP_006724533.1:n.31+1G>T
XM_006724471.2:c.31+1G>T	XP_006724534.1:n.31+1G>T
XM_006724472.2:c.31+1G>T	XP_006724535.1:n.31+1G>T
XM_006724473.2:c.31+1G>T	XP_006724536.1:n.31+1G>T
XM_006724474.2:c.31+1G>T	XP_006724537.1:n.31+1G>T
XM_006724475.2:c.31+1G>T	XP_006724538.1:n.31+1G>T
XM_011545467.1:c.31+1G>T	XP_011543769.1:n.31+1G>T
XM_011545468.1:c.31+1G>T	XP_011543770.1:n.31+1G>T
XM_011545469.1:c.31+1G>T	XP_011543771.1:n.31+1G>T
XM_006724469.3:c.7+127978G>T	XP_006724532.1:n.7+127978G>T
XM_006724470.3:c.31+1G>T	XP_006724533.1:n.31+1G>T
XM_006724474.3:c.31+1G>T	XP_006724537.1:n.31+1G>T
XM_011545468.2:c.31+1G>T	XP_011543770.1:n.31+1G>T
XM_017029328.1:c.31+1G>T	XP_016884817.1:n.31+1G>T
XM_017029329.1:c.31+1G>T	XP_016884818.1:n.31+1G>T
XM_017029330.2:c.31+1G>T	XP_016884819.1:n.31+1G>T
NM_000109.4:c.7+127978G>T	NP_000100.3:n.7+127978G>T
NM_004006.3:c.31+1G>T MANE Select	NP_003997.2:n.31+1G>T