Canonical Allele Identifier: CA10606553

Gene: DMD

Linked Data

• ClinVar Variation Id: 289791
• ClinVar RCV Id: RCV000369654 ; RCV001446652
• dbSNP Id: rs886044268
• MyVariant Identifiers: chrX:g.32503202C>A (hg19) ; chrX:g.32485085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32485085C>A , CM000685.2:g.32485085C>A	GRCh38
NC_000023.10:g.32503202C>A , CM000685.1:g.32503202C>A	GRCh37
NC_000023.9:g.32413123C>A	NCBI36
NG_012232.1:g.859525G>T , LRG_199:g.859525G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.2844G>T
ENST00000683985.1:n.2844G>T
ENST00000357033.9:c.2637G>T MANE Select	ENSP00000354923.3:p.Arg879=
ENST00000357033.8:c.2637G>T	ENSP00000354923.3:p.Arg879=
ENST00000378677.6:c.2625G>T	ENSP00000367948.2:p.Arg875=
ENST00000420596.5:c.94-119886G>T	ENSP00000399897.1:n.94-119886G>T
ENST00000448370.5:c.94-120375G>T	ENSP00000388559.1:n.94-120375G>T
ENST00000488902.5:n.336-268022G>T
ENST00000619831.4:c.2625G>T	ENSP00000479270.1:p.Arg875=
ENST00000620040.4:c.2637G>T	ENSP00000478150.1:p.Arg879=
NM_000109.3:c.2613G>T	NP_000100.2:p.Arg871=
NM_004006.2:c.2637G>T , LRG_199t1:c.2637G>T	NP_003997.1:p.Arg879=
NM_004009.3:c.2625G>T	NP_004000.1:p.Arg875=
NM_004010.3:c.2268G>T	NP_004001.1:p.Arg756=
XM_006724468.2:c.2637G>T	XP_006724531.1:p.Arg879=
XM_006724469.2:c.2613G>T	XP_006724532.1:p.Arg871=
XM_006724470.2:c.2637G>T	XP_006724533.1:p.Arg879=
XM_006724471.2:c.2637G>T	XP_006724534.1:p.Arg879=
XM_006724472.2:c.2508G>T	XP_006724535.1:p.Arg836=
XM_006724473.2:c.2637G>T	XP_006724536.1:p.Arg879=
XM_006724474.2:c.2637G>T	XP_006724537.1:p.Arg879=
XM_006724475.2:c.2637G>T	XP_006724538.1:p.Arg879=
XM_011545467.1:c.2637G>T	XP_011543769.1:p.Arg879=
XM_011545468.1:c.2637G>T	XP_011543770.1:p.Arg879=
XM_011545469.1:c.2637G>T	XP_011543771.1:p.Arg879=
XM_006724469.3:c.2613G>T	XP_006724532.1:p.Arg871=
XM_006724470.3:c.2637G>T	XP_006724533.1:p.Arg879=
XM_006724474.3:c.2637G>T	XP_006724537.1:p.Arg879=
XM_011545468.2:c.2637G>T	XP_011543770.1:p.Arg879=
XM_017029328.1:c.2637G>T	XP_016884817.1:p.Arg879=
XM_017029329.1:c.2637G>T	XP_016884818.1:p.Arg879=
XM_017029330.2:c.2637G>T	XP_016884819.1:p.Arg879=
NM_000109.4:c.2613G>T	NP_000100.3:p.Arg871=
NM_004006.3:c.2637G>T MANE Select	NP_003997.2:p.Arg879=