Canonical Allele Identifier: CA10378819

Gene: DMD

Linked Data

• ClinVar Variation Id: 744957
• ClinVar RCV Id: RCV000921456 ; RCV002336915 ; RCV004543457
• dbSNP Id: rs148868095
• ExAC: X:32383222 G / A
• gnomAD v2: X-32383222-G-A
• gnomAD v3: X-32365105-G-A
• gnomAD v4: X-32365105-G-A
• COSMIC: COSM5188003 ; COSM5188005
• MyVariant Identifiers: chrX:g.32383222G>A (hg19) ; chrX:g.32365105G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365105G>A , CM000685.2:g.32365105G>A	GRCh38
NC_000023.10:g.32383222G>A , CM000685.1:g.32383222G>A	GRCh37
NC_000023.9:g.32293143G>A	NCBI36
NG_012232.1:g.979505C>T , LRG_199:g.979505C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4940C>T MANE Select	ENSP00000354923.3:p.Thr1647Met
ENST00000619831.5:c.908C>T	ENSP00000479270.2:p.Thr303Met
ENST00000357033.8:c.4940C>T	ENSP00000354923.3:p.Thr1647Met
ENST00000378677.6:c.4928C>T	ENSP00000367948.2:p.Thr1643Met
ENST00000420596.5:c.188C>T	ENSP00000399897.1:p.Thr63Met
ENST00000448370.5:c.94-395C>T	ENSP00000388559.1:n.94-395C>T
ENST00000488902.5:n.336-148042C>T
ENST00000619831.4:c.4928C>T	ENSP00000479270.1:p.Thr1643Met
ENST00000620040.4:c.4940C>T	ENSP00000478150.1:p.Thr1647Met
NM_000109.3:c.4916C>T	NP_000100.2:p.Thr1639Met
NM_004006.2:c.4940C>T , LRG_199t1:c.4940C>T	NP_003997.1:p.Thr1647Met
NM_004009.3:c.4928C>T	NP_004000.1:p.Thr1643Met
NM_004010.3:c.4571C>T	NP_004001.1:p.Thr1524Met
NM_004011.3:c.917C>T	NP_004002.2:p.Thr306Met
NM_004012.3:c.908C>T	NP_004003.1:p.Thr303Met
XM_006724468.2:c.4940C>T	XP_006724531.1:p.Thr1647Met
XM_006724469.2:c.4916C>T	XP_006724532.1:p.Thr1639Met
XM_006724470.2:c.4940C>T	XP_006724533.1:p.Thr1647Met
XM_006724471.2:c.4940C>T	XP_006724534.1:p.Thr1647Met
XM_006724472.2:c.4811C>T	XP_006724535.1:p.Thr1604Met
XM_006724473.2:c.4940C>T	XP_006724536.1:p.Thr1647Met
XM_006724474.2:c.4940C>T	XP_006724537.1:p.Thr1647Met
XM_006724475.2:c.4940C>T	XP_006724538.1:p.Thr1647Met
XM_011545467.1:c.4940C>T	XP_011543769.1:p.Thr1647Met
XM_011545468.1:c.4940C>T	XP_011543770.1:p.Thr1647Met
XM_011545469.1:c.4940C>T	XP_011543771.1:p.Thr1647Met
XM_006724469.3:c.4916C>T	XP_006724532.1:p.Thr1639Met
XM_006724470.3:c.4940C>T	XP_006724533.1:p.Thr1647Met
XM_006724474.3:c.4940C>T	XP_006724537.1:p.Thr1647Met
XM_011545468.2:c.4940C>T	XP_011543770.1:p.Thr1647Met
XM_017029328.1:c.4940C>T	XP_016884817.1:p.Thr1647Met
XM_017029329.1:c.4940C>T	XP_016884818.1:p.Thr1647Met
XM_017029330.2:c.4940C>T	XP_016884819.1:p.Thr1647Met
NM_000109.4:c.4916C>T	NP_000100.3:p.Thr1639Met
NM_004006.3:c.4940C>T MANE Select	NP_003997.2:p.Thr1647Met
NM_004011.4:c.917C>T	NP_004002.3:p.Thr306Met
NM_004012.4:c.908C>T	NP_004003.2:p.Thr303Met