Canonical Allele Identifier: CA10378766

Gene: DMD

Linked Data

• ClinVar Variation Id: 1164834
• ClinVar RCV Id: RCV001511334
• dbSNP Id: rs777471296
• ExAC: X:32382705 C / T
• gnomAD v2: X-32382705-C-T
• gnomAD v4: X-32364588-C-T
• MyVariant Identifiers: chrX:g.32382705C>T (hg19) ; chrX:g.32364588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32364588C>T , CM000685.2:g.32364588C>T	GRCh38
NC_000023.10:g.32382705C>T , CM000685.1:g.32382705C>T	GRCh37
NC_000023.9:g.32292626C>T	NCBI36
NG_012232.1:g.980022G>A , LRG_199:g.980022G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357033.9:c.5148G>A MANE Select	ENSP00000354923.3:p.Val1716=
ENST00000619831.5:c.1116G>A	ENSP00000479270.2:p.Val372=
ENST00000357033.8:c.5148G>A	ENSP00000354923.3:p.Val1716=
ENST00000378677.6:c.5136G>A	ENSP00000367948.2:p.Val1712=
ENST00000488902.5:n.336-147525G>A
ENST00000619831.4:c.5136G>A	ENSP00000479270.1:p.Val1712=
ENST00000620040.4:c.5148G>A	ENSP00000478150.1:p.Val1716=
NM_000109.3:c.5124G>A	NP_000100.2:p.Val1708=
NM_004006.2:c.5148G>A , LRG_199t1:c.5148G>A	NP_003997.1:p.Val1716=
NM_004009.3:c.5136G>A	NP_004000.1:p.Val1712=
NM_004010.3:c.4779G>A	NP_004001.1:p.Val1593=
NM_004011.3:c.1125G>A	NP_004002.2:p.Val375=
NM_004012.3:c.1116G>A	NP_004003.1:p.Val372=
XM_006724468.2:c.5148G>A	XP_006724531.1:p.Val1716=
XM_006724469.2:c.5124G>A	XP_006724532.1:p.Val1708=
XM_006724470.2:c.5148G>A	XP_006724533.1:p.Val1716=
XM_006724471.2:c.5148G>A	XP_006724534.1:p.Val1716=
XM_006724472.2:c.5019G>A	XP_006724535.1:p.Val1673=
XM_006724473.2:c.5148G>A	XP_006724536.1:p.Val1716=
XM_006724474.2:c.5148G>A	XP_006724537.1:p.Val1716=
XM_006724475.2:c.5148G>A	XP_006724538.1:p.Val1716=
XM_011545467.1:c.5148G>A	XP_011543769.1:p.Val1716=
XM_011545468.1:c.5148G>A	XP_011543770.1:p.Val1716=
XM_011545469.1:c.5148G>A	XP_011543771.1:p.Val1716=
XM_006724469.3:c.5124G>A	XP_006724532.1:p.Val1708=
XM_006724470.3:c.5148G>A	XP_006724533.1:p.Val1716=
XM_006724474.3:c.5148G>A	XP_006724537.1:p.Val1716=
XM_011545468.2:c.5148G>A	XP_011543770.1:p.Val1716=
XM_017029328.1:c.5148G>A	XP_016884817.1:p.Val1716=
XM_017029329.1:c.5148G>A	XP_016884818.1:p.Val1716=
XM_017029330.2:c.5148G>A	XP_016884819.1:p.Val1716=
NM_000109.4:c.5124G>A	NP_000100.3:p.Val1708=
NM_004006.3:c.5148G>A MANE Select	NP_003997.2:p.Val1716=
NM_004011.4:c.1125G>A	NP_004002.3:p.Val375=
NM_004012.4:c.1116G>A	NP_004003.2:p.Val372=