Canonical Allele Identifier: CA412666958
Community Standard Title: NM_004006.3(DMD):c.3059C>A (p.Ser1020Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32468601G>T , CM000685.2:g.32468601G>T GRCh38
NC_000023.10:g.32486718G>T , CM000685.1:g.32486718G>T GRCh37
NC_000023.9:g.32396639G>T NCBI36
NG_012232.1:g.876009C>A , LRG_199:g.876009C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.3059C>A MANE Select NP_003997.2:p.Ser1020Ter
ENST00000357033.9:c.3059C>A MANE Select ENSP00000354923.3:p.Ser1020Ter
NM_000109.3:c.3035C>A NP_000100.2:p.Ser1012Ter
NM_000109.4:c.3035C>A NP_000100.3:p.Ser1012Ter
NM_004006.2:c.3059C>A , LRG_199t1:c.3059C>A NP_003997.1:p.Ser1020Ter
NM_004009.3:c.3047C>A NP_004000.1:p.Ser1016Ter
NM_004010.3:c.2690C>A NP_004001.1:p.Ser897Ter
ENST00000357033.8:c.3059C>A ENSP00000354923.3:p.Ser1020Ter
ENST00000378677.6:c.3047C>A ENSP00000367948.2:p.Ser1016Ter
ENST00000420596.5:c.94-103402C>A ENSP00000399897.1:n.94-103402C>A
ENST00000448370.5:c.94-103891C>A ENSP00000388559.1:n.94-103891C>A
ENST00000488902.5:n.336-251538C>A
ENST00000619831.4:c.3047C>A ENSP00000479270.1:p.Ser1016Ter
ENST00000620040.4:c.3059C>A ENSP00000478150.1:p.Ser1020Ter
ENST00000682899.1:n.3266C>A
XM_006724468.2:c.3059C>A XP_006724531.1:p.Ser1020Ter
XM_006724469.2:c.3035C>A XP_006724532.1:p.Ser1012Ter
XM_006724469.3:c.3035C>A XP_006724532.1:p.Ser1012Ter
XM_006724470.2:c.3059C>A XP_006724533.1:p.Ser1020Ter
XM_006724470.3:c.3059C>A XP_006724533.1:p.Ser1020Ter
XM_006724471.2:c.3059C>A XP_006724534.1:p.Ser1020Ter
XM_006724472.2:c.2930C>A XP_006724535.1:p.Ser977Ter
XM_006724473.2:c.3059C>A XP_006724536.1:p.Ser1020Ter
XM_006724474.2:c.3059C>A XP_006724537.1:p.Ser1020Ter
XM_006724474.3:c.3059C>A XP_006724537.1:p.Ser1020Ter
XM_006724475.2:c.3059C>A XP_006724538.1:p.Ser1020Ter
XM_011545467.1:c.3059C>A XP_011543769.1:p.Ser1020Ter
XM_011545468.1:c.3059C>A XP_011543770.1:p.Ser1020Ter
XM_011545468.2:c.3059C>A XP_011543770.1:p.Ser1020Ter
XM_011545469.1:c.3059C>A XP_011543771.1:p.Ser1020Ter
XM_017029328.1:c.3059C>A XP_016884817.1:p.Ser1020Ter
XM_017029329.1:c.3059C>A XP_016884818.1:p.Ser1020Ter
XM_017029330.2:c.3059C>A XP_016884819.1:p.Ser1020Ter