Canonical Allele Identifier: CA274957

Gene: DMD

Linked Data

• ClinVar Variation Id: 193869
• ClinVar RCV Id: RCV000174085 ; RCV002470790
• dbSNP Id: rs398123853
• MyVariant Identifiers: chrX:g.32662294G>C (hg19) ; chrX:g.32644177G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32644177G>C , CM000685.2:g.32644177G>C	GRCh38
NC_000023.10:g.32662294G>C , CM000685.1:g.32662294G>C	GRCh37
NC_000023.9:g.32572215G>C	NCBI36
NG_012232.1:g.700433C>G , LRG_199:g.700433C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682071.1:c.917C>G	ENSP00000508133.1:p.Ser306Ter
ENST00000682899.1:n.1493C>G
ENST00000682924.1:c.1286C>G	ENSP00000508187.1:p.Ser429Ter
ENST00000683985.1:n.1493C>G
ENST00000684165.1:n.1493C>G
ENST00000684237.1:c.1157C>G	ENSP00000507277.1:p.Ser386Ter
ENST00000684292.1:n.1493C>G
ENST00000288447.9:c.1262C>G	ENSP00000288447.4:p.Ser421Ter
ENST00000357033.9:c.1286C>G MANE Select	ENSP00000354923.3:p.Ser429Ter
ENST00000288447.8:c.1262C>G	ENSP00000288447.4:p.Ser421Ter
ENST00000357033.8:c.1286C>G	ENSP00000354923.3:p.Ser429Ter
ENST00000378677.6:c.1274C>G	ENSP00000367948.2:p.Ser425Ter
ENST00000420596.5:c.94-278978C>G	ENSP00000399897.1:n.94-278978C>G
ENST00000447523.1:c.247-70331C>G	ENSP00000395904.1:n.247-70331C>G
ENST00000448370.5:c.94-279467C>G	ENSP00000388559.1:n.94-279467C>G
ENST00000480751.1:n.87-70331C>G
ENST00000488902.5:n.335+375962C>G
ENST00000619831.4:c.1274C>G	ENSP00000479270.1:p.Ser425Ter
ENST00000620040.4:c.1286C>G	ENSP00000478150.1:p.Ser429Ter
NM_000109.3:c.1262C>G	NP_000100.2:p.Ser421Ter
NM_004006.2:c.1286C>G , LRG_199t1:c.1286C>G	NP_003997.1:p.Ser429Ter
NM_004009.3:c.1274C>G	NP_004000.1:p.Ser425Ter
NM_004010.3:c.917C>G	NP_004001.1:p.Ser306Ter
XM_006724468.2:c.1286C>G	XP_006724531.1:p.Ser429Ter
XM_006724469.2:c.1262C>G	XP_006724532.1:p.Ser421Ter
XM_006724470.2:c.1286C>G	XP_006724533.1:p.Ser429Ter
XM_006724471.2:c.1286C>G	XP_006724534.1:p.Ser429Ter
XM_006724472.2:c.1157C>G	XP_006724535.1:p.Ser386Ter
XM_006724473.2:c.1286C>G	XP_006724536.1:p.Ser429Ter
XM_006724474.2:c.1286C>G	XP_006724537.1:p.Ser429Ter
XM_006724475.2:c.1286C>G	XP_006724538.1:p.Ser429Ter
XM_011545467.1:c.1286C>G	XP_011543769.1:p.Ser429Ter
XM_011545468.1:c.1286C>G	XP_011543770.1:p.Ser429Ter
XM_011545469.1:c.1286C>G	XP_011543771.1:p.Ser429Ter
XM_006724469.3:c.1262C>G	XP_006724532.1:p.Ser421Ter
XM_006724470.3:c.1286C>G	XP_006724533.1:p.Ser429Ter
XM_006724474.3:c.1286C>G	XP_006724537.1:p.Ser429Ter
XM_011545468.2:c.1286C>G	XP_011543770.1:p.Ser429Ter
XM_017029328.1:c.1286C>G	XP_016884817.1:p.Ser429Ter
XM_017029329.1:c.1286C>G	XP_016884818.1:p.Ser429Ter
XM_017029330.2:c.1286C>G	XP_016884819.1:p.Ser429Ter
NM_000109.4:c.1262C>G	NP_000100.3:p.Ser421Ter
NM_004006.3:c.1286C>G MANE Select	NP_003997.2:p.Ser429Ter