Canonical Allele Identifier: CA266909

Gene: DMD

Linked Data

• ClinVar Variation Id: 94486
• ClinVar RCV Id: RCV000080473 ; RCV001062806
• dbSNP Id: rs398123870
• MyVariant Identifiers: chrX:g.32583821G>A (hg19) ; chrX:g.32565704G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32565704G>A , CM000685.2:g.32565704G>A	GRCh38
NC_000023.10:g.32583821G>A , CM000685.1:g.32583821G>A	GRCh37
NC_000023.9:g.32493742G>A	NCBI36
NG_012232.1:g.778906C>T , LRG_199:g.778906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.2197C>T
ENST00000683985.1:n.2197C>T
ENST00000684165.1:n.2197C>T
ENST00000288447.9:c.1966C>T	ENSP00000288447.4:p.Gln656Ter
ENST00000357033.9:c.1990C>T MANE Select	ENSP00000354923.3:p.Gln664Ter
ENST00000288447.8:c.1966C>T	ENSP00000288447.4:p.Gln656Ter
ENST00000357033.8:c.1990C>T	ENSP00000354923.3:p.Gln664Ter
ENST00000378677.6:c.1978C>T	ENSP00000367948.2:p.Gln660Ter
ENST00000420596.5:c.94-200505C>T	ENSP00000399897.1:n.94-200505C>T
ENST00000448370.5:c.94-200994C>T	ENSP00000388559.1:n.94-200994C>T
ENST00000488902.5:n.336-348641C>T
ENST00000619831.4:c.1978C>T	ENSP00000479270.1:p.Gln660Ter
ENST00000620040.4:c.1990C>T	ENSP00000478150.1:p.Gln664Ter
NM_000109.3:c.1966C>T	NP_000100.2:p.Gln656Ter
NM_004006.2:c.1990C>T , LRG_199t1:c.1990C>T	NP_003997.1:p.Gln664Ter
NM_004009.3:c.1978C>T	NP_004000.1:p.Gln660Ter
NM_004010.3:c.1621C>T	NP_004001.1:p.Gln541Ter
XM_006724468.2:c.1990C>T	XP_006724531.1:p.Gln664Ter
XM_006724469.2:c.1966C>T	XP_006724532.1:p.Gln656Ter
XM_006724470.2:c.1990C>T	XP_006724533.1:p.Gln664Ter
XM_006724471.2:c.1990C>T	XP_006724534.1:p.Gln664Ter
XM_006724472.2:c.1861C>T	XP_006724535.1:p.Gln621Ter
XM_006724473.2:c.1990C>T	XP_006724536.1:p.Gln664Ter
XM_006724474.2:c.1990C>T	XP_006724537.1:p.Gln664Ter
XM_006724475.2:c.1990C>T	XP_006724538.1:p.Gln664Ter
XM_011545467.1:c.1990C>T	XP_011543769.1:p.Gln664Ter
XM_011545468.1:c.1990C>T	XP_011543770.1:p.Gln664Ter
XM_011545469.1:c.1990C>T	XP_011543771.1:p.Gln664Ter
XM_006724469.3:c.1966C>T	XP_006724532.1:p.Gln656Ter
XM_006724470.3:c.1990C>T	XP_006724533.1:p.Gln664Ter
XM_006724474.3:c.1990C>T	XP_006724537.1:p.Gln664Ter
XM_011545468.2:c.1990C>T	XP_011543770.1:p.Gln664Ter
XM_017029328.1:c.1990C>T	XP_016884817.1:p.Gln664Ter
XM_017029329.1:c.1990C>T	XP_016884818.1:p.Gln664Ter
XM_017029330.2:c.1990C>T	XP_016884819.1:p.Gln664Ter
NM_000109.4:c.1966C>T	NP_000100.3:p.Gln656Ter
NM_004006.3:c.1990C>T MANE Select	NP_003997.2:p.Gln664Ter