Canonical Allele Identifier: CA16608445

Gene: DMD

Linked Data

• ClinVar Variation Id: 385957
• ClinVar RCV Id: RCV000438236 ; RCV002521764
• dbSNP Id: rs1057522383
• gnomAD v4: X-32472267-C-T
• MyVariant Identifiers: chrX:g.32490384C>T (hg19) ; chrX:g.32472267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32472267C>T , CM000685.2:g.32472267C>T	GRCh38
NC_000023.10:g.32490384C>T , CM000685.1:g.32490384C>T	GRCh37
NC_000023.9:g.32400305C>T	NCBI36
NG_012232.1:g.872343G>A , LRG_199:g.872343G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3053G>A
ENST00000357033.9:c.2846G>A MANE Select	ENSP00000354923.3:p.Ser949Asn
ENST00000357033.8:c.2846G>A	ENSP00000354923.3:p.Ser949Asn
ENST00000378677.6:c.2834G>A	ENSP00000367948.2:p.Ser945Asn
ENST00000420596.5:c.94-107068G>A	ENSP00000399897.1:n.94-107068G>A
ENST00000448370.5:c.94-107557G>A	ENSP00000388559.1:n.94-107557G>A
ENST00000488902.5:n.336-255204G>A
ENST00000619831.4:c.2834G>A	ENSP00000479270.1:p.Ser945Asn
ENST00000620040.4:c.2846G>A	ENSP00000478150.1:p.Ser949Asn
NM_000109.3:c.2822G>A	NP_000100.2:p.Ser941Asn
NM_004006.2:c.2846G>A , LRG_199t1:c.2846G>A	NP_003997.1:p.Ser949Asn
NM_004009.3:c.2834G>A	NP_004000.1:p.Ser945Asn
NM_004010.3:c.2477G>A	NP_004001.1:p.Ser826Asn
XM_006724468.2:c.2846G>A	XP_006724531.1:p.Ser949Asn
XM_006724469.2:c.2822G>A	XP_006724532.1:p.Ser941Asn
XM_006724470.2:c.2846G>A	XP_006724533.1:p.Ser949Asn
XM_006724471.2:c.2846G>A	XP_006724534.1:p.Ser949Asn
XM_006724472.2:c.2717G>A	XP_006724535.1:p.Ser906Asn
XM_006724473.2:c.2846G>A	XP_006724536.1:p.Ser949Asn
XM_006724474.2:c.2846G>A	XP_006724537.1:p.Ser949Asn
XM_006724475.2:c.2846G>A	XP_006724538.1:p.Ser949Asn
XM_011545467.1:c.2846G>A	XP_011543769.1:p.Ser949Asn
XM_011545468.1:c.2846G>A	XP_011543770.1:p.Ser949Asn
XM_011545469.1:c.2846G>A	XP_011543771.1:p.Ser949Asn
XM_006724469.3:c.2822G>A	XP_006724532.1:p.Ser941Asn
XM_006724470.3:c.2846G>A	XP_006724533.1:p.Ser949Asn
XM_006724474.3:c.2846G>A	XP_006724537.1:p.Ser949Asn
XM_011545468.2:c.2846G>A	XP_011543770.1:p.Ser949Asn
XM_017029328.1:c.2846G>A	XP_016884817.1:p.Ser949Asn
XM_017029329.1:c.2846G>A	XP_016884818.1:p.Ser949Asn
XM_017029330.2:c.2846G>A	XP_016884819.1:p.Ser949Asn
NM_000109.4:c.2822G>A	NP_000100.3:p.Ser941Asn
NM_004006.3:c.2846G>A MANE Select	NP_003997.2:p.Ser949Asn