Canonical Allele Identifier: CA515715411

Gene: DMD

Linked Data

• ClinVar Variation Id: 498977
• ClinVar RCV Id: RCV000597940 ; RCV001433240
• dbSNP Id: rs1557369377
• gnomAD v4: X-32463454-A-G
• MyVariant Identifiers: chrX:g.32481571A>G (hg19) ; chrX:g.32463454A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32463454A>G , CM000685.2:g.32463454A>G	GRCh38
NC_000023.10:g.32481571A>G , CM000685.1:g.32481571A>G	GRCh37
NC_000023.9:g.32391492A>G	NCBI36
NG_012232.1:g.881156T>C , LRG_199:g.881156T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3624T>C
ENST00000357033.9:c.3417T>C MANE Select	ENSP00000354923.3:p.Asp1139=
ENST00000357033.8:c.3417T>C	ENSP00000354923.3:p.Asp1139=
ENST00000378677.6:c.3405T>C	ENSP00000367948.2:p.Asp1135=
ENST00000420596.5:c.94-98255T>C	ENSP00000399897.1:n.94-98255T>C
ENST00000448370.5:c.94-98744T>C	ENSP00000388559.1:n.94-98744T>C
ENST00000488902.5:n.336-246391T>C
ENST00000619831.4:c.3405T>C	ENSP00000479270.1:p.Asp1135=
ENST00000620040.4:c.3417T>C	ENSP00000478150.1:p.Asp1139=
NM_000109.3:c.3393T>C	NP_000100.2:p.Asp1131=
NM_004006.2:c.3417T>C , LRG_199t1:c.3417T>C	NP_003997.1:p.Asp1139=
NM_004009.3:c.3405T>C	NP_004000.1:p.Asp1135=
NM_004010.3:c.3048T>C	NP_004001.1:p.Asp1016=
XM_006724468.2:c.3417T>C	XP_006724531.1:p.Asp1139=
XM_006724469.2:c.3393T>C	XP_006724532.1:p.Asp1131=
XM_006724470.2:c.3417T>C	XP_006724533.1:p.Asp1139=
XM_006724471.2:c.3417T>C	XP_006724534.1:p.Asp1139=
XM_006724472.2:c.3288T>C	XP_006724535.1:p.Asp1096=
XM_006724473.2:c.3417T>C	XP_006724536.1:p.Asp1139=
XM_006724474.2:c.3417T>C	XP_006724537.1:p.Asp1139=
XM_006724475.2:c.3417T>C	XP_006724538.1:p.Asp1139=
XM_011545467.1:c.3417T>C	XP_011543769.1:p.Asp1139=
XM_011545468.1:c.3417T>C	XP_011543770.1:p.Asp1139=
XM_011545469.1:c.3417T>C	XP_011543771.1:p.Asp1139=
XM_006724469.3:c.3393T>C	XP_006724532.1:p.Asp1131=
XM_006724470.3:c.3417T>C	XP_006724533.1:p.Asp1139=
XM_006724474.3:c.3417T>C	XP_006724537.1:p.Asp1139=
XM_011545468.2:c.3417T>C	XP_011543770.1:p.Asp1139=
XM_017029328.1:c.3417T>C	XP_016884817.1:p.Asp1139=
XM_017029329.1:c.3417T>C	XP_016884818.1:p.Asp1139=
XM_017029330.2:c.3417T>C	XP_016884819.1:p.Asp1139=
NM_000109.4:c.3393T>C	NP_000100.3:p.Asp1131=
NM_004006.3:c.3417T>C MANE Select	NP_003997.2:p.Asp1139=