Canonical Allele Identifier: CA10378816

Gene: DMD

Linked Data

• ClinVar Variation Id: 913633
• ClinVar RCV Id: RCV001167367 ; RCV003293914 ; RCV002559601
• dbSNP Id: rs138472027
• ExAC: X:32383220 A / C
• gnomAD v2: X-32383220-A-C
• gnomAD v3: X-32365103-A-C
• gnomAD v4: X-32365103-A-C
• MyVariant Identifiers: chrX:g.32383220A>C (hg19) ; chrX:g.32365103A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365103A>C , CM000685.2:g.32365103A>C	GRCh38
NC_000023.10:g.32383220A>C , CM000685.1:g.32383220A>C	GRCh37
NC_000023.9:g.32293141A>C	NCBI36
NG_012232.1:g.979507T>G , LRG_199:g.979507T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4942T>G MANE Select	ENSP00000354923.3:p.Leu1648Val
ENST00000619831.5:c.910T>G	ENSP00000479270.2:p.Leu304Val
ENST00000357033.8:c.4942T>G	ENSP00000354923.3:p.Leu1648Val
ENST00000378677.6:c.4930T>G	ENSP00000367948.2:p.Leu1644Val
ENST00000420596.5:c.190T>G	ENSP00000399897.1:p.Leu64Val
ENST00000448370.5:c.94-393T>G	ENSP00000388559.1:n.94-393T>G
ENST00000488902.5:n.336-148040T>G
ENST00000619831.4:c.4930T>G	ENSP00000479270.1:p.Leu1644Val
ENST00000620040.4:c.4942T>G	ENSP00000478150.1:p.Leu1648Val
NM_000109.3:c.4918T>G	NP_000100.2:p.Leu1640Val
NM_004006.2:c.4942T>G , LRG_199t1:c.4942T>G	NP_003997.1:p.Leu1648Val
NM_004009.3:c.4930T>G	NP_004000.1:p.Leu1644Val
NM_004010.3:c.4573T>G	NP_004001.1:p.Leu1525Val
NM_004011.3:c.919T>G	NP_004002.2:p.Leu307Val
NM_004012.3:c.910T>G	NP_004003.1:p.Leu304Val
XM_006724468.2:c.4942T>G	XP_006724531.1:p.Leu1648Val
XM_006724469.2:c.4918T>G	XP_006724532.1:p.Leu1640Val
XM_006724470.2:c.4942T>G	XP_006724533.1:p.Leu1648Val
XM_006724471.2:c.4942T>G	XP_006724534.1:p.Leu1648Val
XM_006724472.2:c.4813T>G	XP_006724535.1:p.Leu1605Val
XM_006724473.2:c.4942T>G	XP_006724536.1:p.Leu1648Val
XM_006724474.2:c.4942T>G	XP_006724537.1:p.Leu1648Val
XM_006724475.2:c.4942T>G	XP_006724538.1:p.Leu1648Val
XM_011545467.1:c.4942T>G	XP_011543769.1:p.Leu1648Val
XM_011545468.1:c.4942T>G	XP_011543770.1:p.Leu1648Val
XM_011545469.1:c.4942T>G	XP_011543771.1:p.Leu1648Val
XM_006724469.3:c.4918T>G	XP_006724532.1:p.Leu1640Val
XM_006724470.3:c.4942T>G	XP_006724533.1:p.Leu1648Val
XM_006724474.3:c.4942T>G	XP_006724537.1:p.Leu1648Val
XM_011545468.2:c.4942T>G	XP_011543770.1:p.Leu1648Val
XM_017029328.1:c.4942T>G	XP_016884817.1:p.Leu1648Val
XM_017029329.1:c.4942T>G	XP_016884818.1:p.Leu1648Val
XM_017029330.2:c.4942T>G	XP_016884819.1:p.Leu1648Val
NM_000109.4:c.4918T>G	NP_000100.3:p.Leu1640Val
NM_004006.3:c.4942T>G MANE Select	NP_003997.2:p.Leu1648Val
NM_004011.4:c.919T>G	NP_004002.3:p.Leu307Val
NM_004012.4:c.910T>G	NP_004003.2:p.Leu304Val