Canonical Allele Identifier: CA412673617
Community Standard Title: NM_004006.3(DMD):c.2346A>C (p.Arg782Ser)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32501789T>G , CM000685.2:g.32501789T>G GRCh38
NC_000023.10:g.32519906T>G , CM000685.1:g.32519906T>G GRCh37
NC_000023.9:g.32429827T>G NCBI36
NG_012232.1:g.842821A>C , LRG_199:g.842821A>C

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.2346A>C MANE Select NP_003997.2:p.Arg782Ser
ENST00000357033.9:c.2346A>C MANE Select ENSP00000354923.3:p.Arg782Ser
NM_000109.3:c.2322A>C NP_000100.2:p.Arg774Ser
NM_000109.4:c.2322A>C NP_000100.3:p.Arg774Ser
NM_004006.2:c.2346A>C , LRG_199t1:c.2346A>C NP_003997.1:p.Arg782Ser
NM_004009.3:c.2334A>C NP_004000.1:p.Arg778Ser
NM_004010.3:c.1977A>C NP_004001.1:p.Arg659Ser
ENST00000357033.8:c.2346A>C ENSP00000354923.3:p.Arg782Ser
ENST00000378677.6:c.2334A>C ENSP00000367948.2:p.Arg778Ser
ENST00000420596.5:c.94-136590A>C ENSP00000399897.1:n.94-136590A>C
ENST00000448370.5:c.94-137079A>C ENSP00000388559.1:n.94-137079A>C
ENST00000488902.5:n.336-284726A>C
ENST00000619831.4:c.2334A>C ENSP00000479270.1:p.Arg778Ser
ENST00000620040.4:c.2346A>C ENSP00000478150.1:p.Arg782Ser
ENST00000682899.1:n.2553A>C
ENST00000683985.1:n.2553A>C
XM_006724468.2:c.2346A>C XP_006724531.1:p.Arg782Ser
XM_006724469.2:c.2322A>C XP_006724532.1:p.Arg774Ser
XM_006724469.3:c.2322A>C XP_006724532.1:p.Arg774Ser
XM_006724470.2:c.2346A>C XP_006724533.1:p.Arg782Ser
XM_006724470.3:c.2346A>C XP_006724533.1:p.Arg782Ser
XM_006724471.2:c.2346A>C XP_006724534.1:p.Arg782Ser
XM_006724472.2:c.2217A>C XP_006724535.1:p.Arg739Ser
XM_006724473.2:c.2346A>C XP_006724536.1:p.Arg782Ser
XM_006724474.2:c.2346A>C XP_006724537.1:p.Arg782Ser
XM_006724474.3:c.2346A>C XP_006724537.1:p.Arg782Ser
XM_006724475.2:c.2346A>C XP_006724538.1:p.Arg782Ser
XM_011545467.1:c.2346A>C XP_011543769.1:p.Arg782Ser
XM_011545468.1:c.2346A>C XP_011543770.1:p.Arg782Ser
XM_011545468.2:c.2346A>C XP_011543770.1:p.Arg782Ser
XM_011545469.1:c.2346A>C XP_011543771.1:p.Arg782Ser
XM_017029328.1:c.2346A>C XP_016884817.1:p.Arg782Ser
XM_017029329.1:c.2346A>C XP_016884818.1:p.Arg782Ser
XM_017029330.2:c.2346A>C XP_016884819.1:p.Arg782Ser