Canonical Allele Identifier: CA1794116281
Gene: GDAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.74364040A= , CM000670.2:g.74364040A= GRCh38
NC_000008.10:g.75276275A= , CM000670.1:g.75276275A= GRCh37
NC_000008.9:g.75438830A= NCBI36
NG_008787.2:g.47911A=
NG_008787.3:g.47911A=

Transcript Alleles

HGVS Amino-acid change
ENST00000220822.12:c.750A= MANE Select ENSP00000220822.7:p.Ser250=
ENST00000434412.3:c.618A= ENSP00000417006.3:p.Ser206=
ENST00000520797.6:n.861A=
ENST00000521096.6:n.606A=
ENST00000522568.2:c.*422A= ENSP00000430136.1:n.*422A=
ENST00000523640.2:c.165+12719A= ENSP00000502017.1:n.165+12719A=
ENST00000524195.2:c.280+987A= ENSP00000502308.1:n.280+987A=
ENST00000674612.1:c.423A= ENSP00000501864.1:p.Ser141=
ENST00000674710.1:c.694+987A= ENSP00000502762.1:n.694+987A=
ENST00000674754.1:c.*2313A= ENSP00000502063.1:n.*2313A=
ENST00000674756.1:c.*366+987A= ENSP00000501860.1:n.*366+987A=
ENST00000674806.1:c.423A= ENSP00000502637.1:p.Ser141=
ENST00000674865.1:c.546A= ENSP00000502437.1:p.Ser182=
ENST00000674926.1:c.*1382A= ENSP00000501799.1:n.*1382A=
ENST00000674934.1:c.*438A= ENSP00000502187.1:n.*438A=
ENST00000674944.1:c.*1353A= ENSP00000501858.1:n.*1353A=
ENST00000674946.1:c.694+987A= ENSP00000501569.1:n.694+987A=
ENST00000674973.1:c.444A= ENSP00000502447.1:p.Ser148=
ENST00000675007.1:c.*488A= ENSP00000502119.1:n.*488A=
ENST00000675060.1:c.*415A= ENSP00000501616.1:n.*415A=
ENST00000675165.1:c.747A= ENSP00000502612.1:p.Ser249=
ENST00000675220.1:c.423A= ENSP00000502588.1:p.Ser141=
ENST00000675265.1:c.*500A= ENSP00000501848.1:n.*500A=
ENST00000675336.1:c.*236A= ENSP00000502120.1:n.*236A=
ENST00000675376.1:c.423A= ENSP00000502838.1:p.Ser141=
ENST00000675463.1:c.828A= ENSP00000502327.1:p.Ser276=
ENST00000675472.1:c.*236A= ENSP00000501946.1:n.*236A=
ENST00000675474.1:n.335A=
ENST00000675560.1:c.*366+987A= ENSP00000502118.1:n.*366+987A=
ENST00000675625.1:c.*422A= ENSP00000501626.1:n.*422A=
ENST00000675633.1:c.*157A= ENSP00000501785.1:n.*157A=
ENST00000675661.1:c.*510A= ENSP00000501958.1:n.*510A=
ENST00000675706.1:n.2708A=
ENST00000675821.1:c.423A= ENSP00000502198.1:p.Ser141=
ENST00000675832.1:c.*422A= ENSP00000502041.1:n.*422A=
ENST00000675928.1:c.576A= ENSP00000501568.1:p.Ser192=
ENST00000675944.1:c.546A= ENSP00000502673.1:p.Ser182=
ENST00000675999.1:c.694+987A= ENSP00000502572.1:n.694+987A=
ENST00000676049.1:c.*652A= ENSP00000501912.1:n.*652A=
ENST00000676112.1:c.816A= ENSP00000502295.1:p.Ser272=
ENST00000676143.1:c.423A= ENSP00000502828.1:p.Ser141=
ENST00000676207.1:c.694+987A= ENSP00000502638.1:n.694+987A=
ENST00000676377.1:c.423A= ENSP00000502756.1:p.Ser141=
ENST00000676415.1:c.*56A= ENSP00000502665.1:n.*56A=
ENST00000676443.1:c.702A= ENSP00000501769.1:p.Ser234=
ENST00000220822.11:c.750A= ENSP00000220822.7:p.Ser250=
ENST00000434412.2:c.546A= ENSP00000417006.2:p.Ser182=
ENST00000520797.5:n.515A=
ENST00000521096.5:n.556A=
ENST00000522568.1:c.*422A= ENSP00000430136.1:n.*422A=
ENST00000524195.1:n.103+987A=
NM_001040875.2:c.546A= NP_001035808.1:p.Ser182=
NM_018972.2:c.750A= NP_061845.2:p.Ser250=
NR_046346.1:n.684A=
XM_011517551.1:c.1044A= XP_011515853.1:p.Ser348=
XM_011517552.1:c.423A= XP_011515854.1:p.Ser141=
NM_001040875.3:c.546A= NP_001035808.1:p.Ser182=
NM_001362929.1:c.423A= NP_001349858.1:p.Ser141=
NM_001362930.1:c.576A= NP_001349859.1:p.Ser192=
NM_001362931.1:c.694+987A= NP_001349860.1:n.694+987A=
NM_001362932.1:c.423A= NP_001349861.1:p.Ser141=
NM_018972.3:c.750A= NP_061845.2:p.Ser250=
NM_001362931.2:c.694+987A= NP_001349860.1:n.694+987A=
NM_018972.4:c.750A= MANE Select NP_061845.2:p.Ser250=
NM_001040875.4:c.546A= NP_001035808.1:p.Ser182=
NM_001362929.2:c.423A= NP_001349858.1:p.Ser141=
NM_001362930.2:c.576A= NP_001349859.1:p.Ser192=
NM_001362932.2:c.423A= NP_001349861.1:p.Ser141=