Canonical Allele Identifier: CA412672724
Community Standard Title: NM_004006.3(DMD):c.2448C>A (p.Cys816Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32491451G>T , CM000685.2:g.32491451G>T GRCh38
NC_000023.10:g.32509568G>T , CM000685.1:g.32509568G>T GRCh37
NC_000023.9:g.32419489G>T NCBI36
NG_012232.1:g.853159C>A , LRG_199:g.853159C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.2448C>A MANE Select NP_003997.2:p.Cys816Ter
ENST00000357033.9:c.2448C>A MANE Select ENSP00000354923.3:p.Cys816Ter
NM_000109.3:c.2424C>A NP_000100.2:p.Cys808Ter
NM_000109.4:c.2424C>A NP_000100.3:p.Cys808Ter
NM_004006.2:c.2448C>A , LRG_199t1:c.2448C>A NP_003997.1:p.Cys816Ter
NM_004009.3:c.2436C>A NP_004000.1:p.Cys812Ter
NM_004010.3:c.2079C>A NP_004001.1:p.Cys693Ter
ENST00000357033.8:c.2448C>A ENSP00000354923.3:p.Cys816Ter
ENST00000378677.6:c.2436C>A ENSP00000367948.2:p.Cys812Ter
ENST00000420596.5:c.94-126252C>A ENSP00000399897.1:n.94-126252C>A
ENST00000448370.5:c.94-126741C>A ENSP00000388559.1:n.94-126741C>A
ENST00000488902.5:n.336-274388C>A
ENST00000619831.4:c.2436C>A ENSP00000479270.1:p.Cys812Ter
ENST00000620040.4:c.2448C>A ENSP00000478150.1:p.Cys816Ter
ENST00000682899.1:n.2655C>A
ENST00000683985.1:n.2655C>A
XM_006724468.2:c.2448C>A XP_006724531.1:p.Cys816Ter
XM_006724469.2:c.2424C>A XP_006724532.1:p.Cys808Ter
XM_006724469.3:c.2424C>A XP_006724532.1:p.Cys808Ter
XM_006724470.2:c.2448C>A XP_006724533.1:p.Cys816Ter
XM_006724470.3:c.2448C>A XP_006724533.1:p.Cys816Ter
XM_006724471.2:c.2448C>A XP_006724534.1:p.Cys816Ter
XM_006724472.2:c.2319C>A XP_006724535.1:p.Cys773Ter
XM_006724473.2:c.2448C>A XP_006724536.1:p.Cys816Ter
XM_006724474.2:c.2448C>A XP_006724537.1:p.Cys816Ter
XM_006724474.3:c.2448C>A XP_006724537.1:p.Cys816Ter
XM_006724475.2:c.2448C>A XP_006724538.1:p.Cys816Ter
XM_011545467.1:c.2448C>A XP_011543769.1:p.Cys816Ter
XM_011545468.1:c.2448C>A XP_011543770.1:p.Cys816Ter
XM_011545468.2:c.2448C>A XP_011543770.1:p.Cys816Ter
XM_011545469.1:c.2448C>A XP_011543771.1:p.Cys816Ter
XM_017029328.1:c.2448C>A XP_016884817.1:p.Cys816Ter
XM_017029329.1:c.2448C>A XP_016884818.1:p.Cys816Ter
XM_017029330.2:c.2448C>A XP_016884819.1:p.Cys816Ter