Canonical Allele Identifier: CA245528

Gene: DMD

Linked Data

• ClinVar Variation Id: 180314
• ClinVar RCV Id: RCV000157167 ; RCV000222591 ; RCV000459519 ; RCV000617904 ; RCV001719984
• dbSNP Id: rs201302282
• ExAC: X:32361289 C / T
• gnomAD v2: X-32361289-C-T
• gnomAD v3: X-32343172-C-T
• gnomAD v4: X-32343172-C-T
• COSMIC: COSM1120444 ; COSM1120446 ; COSM1120447 ; COSM1599352
• MyVariant Identifiers: chrX:g.32361289C>T (hg19) ; chrX:g.32343172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343172C>T , CM000685.2:g.32343172C>T	GRCh38
NC_000023.10:g.32361289C>T , CM000685.1:g.32361289C>T	GRCh37
NC_000023.9:g.32271210C>T	NCBI36
NG_012232.1:g.1001438G>A , LRG_199:g.1001438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.547G>A	ENSP00000350765.3:p.Ala183Thr
ENST00000357033.9:c.5701G>A MANE Select	ENSP00000354923.3:p.Ala1901Thr
ENST00000619831.5:c.1669G>A	ENSP00000479270.2:p.Ala557Thr
ENST00000357033.8:c.5701G>A	ENSP00000354923.3:p.Ala1901Thr
ENST00000378677.6:c.5689G>A	ENSP00000367948.2:p.Ala1897Thr
ENST00000488902.5:n.336-126109G>A
ENST00000493412.1:c.358G>A	ENSP00000417725.1:p.Ala120Thr
ENST00000619831.4:c.5689G>A	ENSP00000479270.1:p.Ala1897Thr
ENST00000620040.4:c.5701G>A	ENSP00000478150.1:p.Ala1901Thr
NM_000109.3:c.5677G>A	NP_000100.2:p.Ala1893Thr
NM_004006.2:c.5701G>A , LRG_199t1:c.5701G>A	NP_003997.1:p.Ala1901Thr
NM_004009.3:c.5689G>A	NP_004000.1:p.Ala1897Thr
NM_004010.3:c.5332G>A	NP_004001.1:p.Ala1778Thr
NM_004011.3:c.1678G>A	NP_004002.2:p.Ala560Thr
NM_004012.3:c.1669G>A	NP_004003.1:p.Ala557Thr
XM_006724468.2:c.5701G>A	XP_006724531.1:p.Ala1901Thr
XM_006724469.2:c.5677G>A	XP_006724532.1:p.Ala1893Thr
XM_006724470.2:c.5701G>A	XP_006724533.1:p.Ala1901Thr
XM_006724471.2:c.5701G>A	XP_006724534.1:p.Ala1901Thr
XM_006724472.2:c.5572G>A	XP_006724535.1:p.Ala1858Thr
XM_006724473.2:c.5563G>A	XP_006724536.1:p.Ala1855Thr
XM_006724474.2:c.5701G>A	XP_006724537.1:p.Ala1901Thr
XM_006724475.2:c.5701G>A	XP_006724538.1:p.Ala1901Thr
XM_011545467.1:c.5578G>A	XP_011543769.1:p.Ala1860Thr
XM_011545468.1:c.5701G>A	XP_011543770.1:p.Ala1901Thr
XM_011545469.1:c.5701G>A	XP_011543771.1:p.Ala1901Thr
XM_006724469.3:c.5677G>A	XP_006724532.1:p.Ala1893Thr
XM_006724470.3:c.5701G>A	XP_006724533.1:p.Ala1901Thr
XM_006724474.3:c.5701G>A	XP_006724537.1:p.Ala1901Thr
XM_011545468.2:c.5701G>A	XP_011543770.1:p.Ala1901Thr
XM_017029328.1:c.5701G>A	XP_016884817.1:p.Ala1901Thr
XM_017029329.1:c.5701G>A	XP_016884818.1:p.Ala1901Thr
XM_017029330.2:c.5701G>A	XP_016884819.1:p.Ala1901Thr
NM_000109.4:c.5677G>A	NP_000100.3:p.Ala1893Thr
NM_004006.3:c.5701G>A MANE Select	NP_003997.2:p.Ala1901Thr
NM_004011.4:c.1678G>A	NP_004002.3:p.Ala560Thr
NM_004012.4:c.1669G>A	NP_004003.2:p.Ala557Thr