Canonical Allele Identifier: CA10378953

Gene: DMD

Linked Data

• ClinVar Variation Id: 375863
• ClinVar RCV Id: RCV000417293 ; RCV001369813 ; RCV001833510 ; RCV002328906
• dbSNP Id: rs765355046
• ExAC: X:32407687 C / T
• gnomAD v2: X-32407687-C-T
• gnomAD v3: X-32389570-C-T
• gnomAD v4: X-32389570-C-T
• MyVariant Identifiers: chrX:g.32407687C>T (hg19) ; chrX:g.32389570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32389570C>T , CM000685.2:g.32389570C>T	GRCh38
NC_000023.10:g.32407687C>T , CM000685.1:g.32407687C>T	GRCh37
NC_000023.9:g.32317608C>T	NCBI36
NG_012232.1:g.955040G>A , LRG_199:g.955040G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4449G>A MANE Select	ENSP00000354923.3:p.Met1483Ile
ENST00000619831.5:c.417G>A	ENSP00000479270.2:p.Met139Ile
ENST00000357033.8:c.4449G>A	ENSP00000354923.3:p.Met1483Ile
ENST00000378677.6:c.4437G>A	ENSP00000367948.2:p.Met1479Ile
ENST00000420596.5:c.94-24371G>A	ENSP00000399897.1:n.94-24371G>A
ENST00000448370.5:c.94-24860G>A	ENSP00000388559.1:n.94-24860G>A
ENST00000488902.5:n.336-172507G>A
ENST00000619831.4:c.4437G>A	ENSP00000479270.1:p.Met1479Ile
ENST00000620040.4:c.4449G>A	ENSP00000478150.1:p.Met1483Ile
NM_000109.3:c.4425G>A	NP_000100.2:p.Met1475Ile
NM_004006.2:c.4449G>A , LRG_199t1:c.4449G>A	NP_003997.1:p.Met1483Ile
NM_004009.3:c.4437G>A	NP_004000.1:p.Met1479Ile
NM_004010.3:c.4080G>A	NP_004001.1:p.Met1360Ile
NM_004011.3:c.426G>A	NP_004002.2:p.Met142Ile
NM_004012.3:c.417G>A	NP_004003.1:p.Met139Ile
XM_006724468.2:c.4449G>A	XP_006724531.1:p.Met1483Ile
XM_006724469.2:c.4425G>A	XP_006724532.1:p.Met1475Ile
XM_006724470.2:c.4449G>A	XP_006724533.1:p.Met1483Ile
XM_006724471.2:c.4449G>A	XP_006724534.1:p.Met1483Ile
XM_006724472.2:c.4320G>A	XP_006724535.1:p.Met1440Ile
XM_006724473.2:c.4449G>A	XP_006724536.1:p.Met1483Ile
XM_006724474.2:c.4449G>A	XP_006724537.1:p.Met1483Ile
XM_006724475.2:c.4449G>A	XP_006724538.1:p.Met1483Ile
XM_011545467.1:c.4449G>A	XP_011543769.1:p.Met1483Ile
XM_011545468.1:c.4449G>A	XP_011543770.1:p.Met1483Ile
XM_011545469.1:c.4449G>A	XP_011543771.1:p.Met1483Ile
XM_006724469.3:c.4425G>A	XP_006724532.1:p.Met1475Ile
XM_006724470.3:c.4449G>A	XP_006724533.1:p.Met1483Ile
XM_006724474.3:c.4449G>A	XP_006724537.1:p.Met1483Ile
XM_011545468.2:c.4449G>A	XP_011543770.1:p.Met1483Ile
XM_017029328.1:c.4449G>A	XP_016884817.1:p.Met1483Ile
XM_017029329.1:c.4449G>A	XP_016884818.1:p.Met1483Ile
XM_017029330.2:c.4449G>A	XP_016884819.1:p.Met1483Ile
NM_000109.4:c.4425G>A	NP_000100.3:p.Met1475Ile
NM_004006.3:c.4449G>A MANE Select	NP_003997.2:p.Met1483Ile
NM_004011.4:c.426G>A	NP_004002.3:p.Met142Ile
NM_004012.4:c.417G>A	NP_004003.2:p.Met139Ile