Canonical Allele Identifier: CA10379259

Gene: DMD

Linked Data

• ClinVar Variation Id: 1424467
• ClinVar RCV Id: RCV001921680
• dbSNP Id: rs757041202
• ExAC: X:32472906 G / A
• gnomAD v2: X-32472906-G-A
• gnomAD v3: X-32454789-G-A
• gnomAD v4: X-32454789-G-A
• MyVariant Identifiers: chrX:g.32472906G>A (hg19) ; chrX:g.32454789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32454789G>A , CM000685.2:g.32454789G>A	GRCh38
NC_000023.10:g.32472906G>A , CM000685.1:g.32472906G>A	GRCh37
NC_000023.9:g.32382827G>A	NCBI36
NG_012232.1:g.889821C>T , LRG_199:g.889821C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682899.1:n.3683C>T
ENST00000357033.9:c.3476C>T MANE Select	ENSP00000354923.3:p.Thr1159Ile
ENST00000357033.8:c.3476C>T	ENSP00000354923.3:p.Thr1159Ile
ENST00000378677.6:c.3464C>T	ENSP00000367948.2:p.Thr1155Ile
ENST00000420596.5:c.94-89590C>T	ENSP00000399897.1:n.94-89590C>T
ENST00000448370.5:c.94-90079C>T	ENSP00000388559.1:n.94-90079C>T
ENST00000488902.5:n.336-237726C>T
ENST00000619831.4:c.3464C>T	ENSP00000479270.1:p.Thr1155Ile
ENST00000620040.4:c.3476C>T	ENSP00000478150.1:p.Thr1159Ile
NM_000109.3:c.3452C>T	NP_000100.2:p.Thr1151Ile
NM_004006.2:c.3476C>T , LRG_199t1:c.3476C>T	NP_003997.1:p.Thr1159Ile
NM_004009.3:c.3464C>T	NP_004000.1:p.Thr1155Ile
NM_004010.3:c.3107C>T	NP_004001.1:p.Thr1036Ile
XM_006724468.2:c.3476C>T	XP_006724531.1:p.Thr1159Ile
XM_006724469.2:c.3452C>T	XP_006724532.1:p.Thr1151Ile
XM_006724470.2:c.3476C>T	XP_006724533.1:p.Thr1159Ile
XM_006724471.2:c.3476C>T	XP_006724534.1:p.Thr1159Ile
XM_006724472.2:c.3347C>T	XP_006724535.1:p.Thr1116Ile
XM_006724473.2:c.3476C>T	XP_006724536.1:p.Thr1159Ile
XM_006724474.2:c.3476C>T	XP_006724537.1:p.Thr1159Ile
XM_006724475.2:c.3476C>T	XP_006724538.1:p.Thr1159Ile
XM_011545467.1:c.3476C>T	XP_011543769.1:p.Thr1159Ile
XM_011545468.1:c.3476C>T	XP_011543770.1:p.Thr1159Ile
XM_011545469.1:c.3476C>T	XP_011543771.1:p.Thr1159Ile
XM_006724469.3:c.3452C>T	XP_006724532.1:p.Thr1151Ile
XM_006724470.3:c.3476C>T	XP_006724533.1:p.Thr1159Ile
XM_006724474.3:c.3476C>T	XP_006724537.1:p.Thr1159Ile
XM_011545468.2:c.3476C>T	XP_011543770.1:p.Thr1159Ile
XM_017029328.1:c.3476C>T	XP_016884817.1:p.Thr1159Ile
XM_017029329.1:c.3476C>T	XP_016884818.1:p.Thr1159Ile
XM_017029330.2:c.3476C>T	XP_016884819.1:p.Thr1159Ile
NM_000109.4:c.3452C>T	NP_000100.3:p.Thr1151Ile
NM_004006.3:c.3476C>T MANE Select	NP_003997.2:p.Thr1159Ile