Canonical Allele Identifier: CA515722753
Community Standard Title: NM_004006.3(DMD):c.1998A>G (p.Ser666=)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32545329T>C , CM000685.2:g.32545329T>C GRCh38
NC_000023.10:g.32563446T>C , CM000685.1:g.32563446T>C GRCh37
NC_000023.9:g.32473367T>C NCBI36
NG_012232.1:g.799281A>G , LRG_199:g.799281A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.1998A>G MANE Select NP_003997.2:p.Ser666=
ENST00000357033.9:c.1998A>G MANE Select ENSP00000354923.3:p.Ser666=
NM_000109.3:c.1974A>G NP_000100.2:p.Ser658=
NM_000109.4:c.1974A>G NP_000100.3:p.Ser658=
NM_004006.2:c.1998A>G , LRG_199t1:c.1998A>G NP_003997.1:p.Ser666=
NM_004009.3:c.1986A>G NP_004000.1:p.Ser662=
NM_004010.3:c.1629A>G NP_004001.1:p.Ser543=
ENST00000288447.8:c.1974A>G ENSP00000288447.4:p.Ser658=
ENST00000288447.9:c.1974A>G ENSP00000288447.4:p.Ser658=
ENST00000357033.8:c.1998A>G ENSP00000354923.3:p.Ser666=
ENST00000378677.6:c.1986A>G ENSP00000367948.2:p.Ser662=
ENST00000420596.5:c.94-180130A>G ENSP00000399897.1:n.94-180130A>G
ENST00000448370.5:c.94-180619A>G ENSP00000388559.1:n.94-180619A>G
ENST00000488902.5:n.336-328266A>G
ENST00000619831.4:c.1986A>G ENSP00000479270.1:p.Ser662=
ENST00000620040.4:c.1998A>G ENSP00000478150.1:p.Ser666=
ENST00000682899.1:n.2205A>G
ENST00000683985.1:n.2205A>G
XM_006724468.2:c.1998A>G XP_006724531.1:p.Ser666=
XM_006724469.2:c.1974A>G XP_006724532.1:p.Ser658=
XM_006724469.3:c.1974A>G XP_006724532.1:p.Ser658=
XM_006724470.2:c.1998A>G XP_006724533.1:p.Ser666=
XM_006724470.3:c.1998A>G XP_006724533.1:p.Ser666=
XM_006724471.2:c.1998A>G XP_006724534.1:p.Ser666=
XM_006724472.2:c.1869A>G XP_006724535.1:p.Ser623=
XM_006724473.2:c.1998A>G XP_006724536.1:p.Ser666=
XM_006724474.2:c.1998A>G XP_006724537.1:p.Ser666=
XM_006724474.3:c.1998A>G XP_006724537.1:p.Ser666=
XM_006724475.2:c.1998A>G XP_006724538.1:p.Ser666=
XM_011545467.1:c.1998A>G XP_011543769.1:p.Ser666=
XM_011545468.1:c.1998A>G XP_011543770.1:p.Ser666=
XM_011545468.2:c.1998A>G XP_011543770.1:p.Ser666=
XM_011545469.1:c.1998A>G XP_011543771.1:p.Ser666=
XM_017029328.1:c.1998A>G XP_016884817.1:p.Ser666=
XM_017029329.1:c.1998A>G XP_016884818.1:p.Ser666=
XM_017029330.2:c.1998A>G XP_016884819.1:p.Ser666=