Canonical Allele Identifier: CA1794116464
Gene: GDAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.74364134C= , CM000670.2:g.74364134C= GRCh38
NC_000008.10:g.75276369C= , CM000670.1:g.75276369C= GRCh37
NC_000008.9:g.75438924C= NCBI36
NG_008787.2:g.48005C=
NG_008787.3:g.48005C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000220822.12:c.844C= MANE Select ENSP00000220822.7:p.Arg282=
ENST00000434412.3:c.712C= ENSP00000417006.3:p.Arg238=
ENST00000520797.6:n.955C=
ENST00000521096.6:n.700C=
ENST00000522568.2:c.*516C= ENSP00000430136.1:n.*516C=
ENST00000523640.2:c.165+12813C= ENSP00000502017.1:n.165+12813C=
ENST00000524195.2:c.280+1081C= ENSP00000502308.1:n.280+1081C=
ENST00000674612.1:c.517C= ENSP00000501864.1:p.Arg173=
ENST00000674710.1:c.694+1081C= ENSP00000502762.1:n.694+1081C=
ENST00000674754.1:c.*2407C= ENSP00000502063.1:n.*2407C=
ENST00000674756.1:c.*366+1081C= ENSP00000501860.1:n.*366+1081C=
ENST00000674806.1:c.517C= ENSP00000502637.1:p.Arg173=
ENST00000674865.1:c.640C= ENSP00000502437.1:p.Arg214=
ENST00000674926.1:c.*1476C= ENSP00000501799.1:n.*1476C=
ENST00000674934.1:c.*532C= ENSP00000502187.1:n.*532C=
ENST00000674944.1:c.*1447C= ENSP00000501858.1:n.*1447C=
ENST00000674946.1:c.694+1081C= ENSP00000501569.1:n.694+1081C=
ENST00000674973.1:c.538C= ENSP00000502447.1:p.Arg180=
ENST00000675007.1:c.*582C= ENSP00000502119.1:n.*582C=
ENST00000675060.1:c.*509C= ENSP00000501616.1:n.*509C=
ENST00000675165.1:c.841C= ENSP00000502612.1:p.Arg281=
ENST00000675220.1:c.517C= ENSP00000502588.1:p.Arg173=
ENST00000675265.1:c.*594C= ENSP00000501848.1:n.*594C=
ENST00000675336.1:c.*330C= ENSP00000502120.1:n.*330C=
ENST00000675376.1:c.517C= ENSP00000502838.1:p.Arg173=
ENST00000675463.1:c.922C= ENSP00000502327.1:p.Arg308=
ENST00000675472.1:c.*330C= ENSP00000501946.1:n.*330C=
ENST00000675474.1:n.429C=
ENST00000675560.1:c.*366+1081C= ENSP00000502118.1:n.*366+1081C=
ENST00000675625.1:c.*516C= ENSP00000501626.1:n.*516C=
ENST00000675633.1:c.*251C= ENSP00000501785.1:n.*251C=
ENST00000675661.1:c.*604C= ENSP00000501958.1:n.*604C=
ENST00000675706.1:n.2802C=
ENST00000675821.1:c.517C= ENSP00000502198.1:p.Arg173=
ENST00000675832.1:c.*516C= ENSP00000502041.1:n.*516C=
ENST00000675928.1:c.670C= ENSP00000501568.1:p.Arg224=
ENST00000675944.1:c.640C= ENSP00000502673.1:p.Arg214=
ENST00000675999.1:c.694+1081C= ENSP00000502572.1:n.694+1081C=
ENST00000676049.1:c.*746C= ENSP00000501912.1:n.*746C=
ENST00000676112.1:c.910C= ENSP00000502295.1:p.Arg304=
ENST00000676143.1:c.517C= ENSP00000502828.1:p.Arg173=
ENST00000676207.1:c.694+1081C= ENSP00000502638.1:n.694+1081C=
ENST00000676377.1:c.517C= ENSP00000502756.1:p.Arg173=
ENST00000676415.1:c.*150C= ENSP00000502665.1:n.*150C=
ENST00000676443.1:c.796C= ENSP00000501769.1:p.Arg266=
ENST00000220822.11:c.844C= ENSP00000220822.7:p.Arg282=
ENST00000434412.2:c.640C= ENSP00000417006.2:p.Arg214=
ENST00000520797.5:n.609C=
ENST00000521096.5:n.650C=
ENST00000522568.1:c.*516C= ENSP00000430136.1:n.*516C=
ENST00000524195.1:n.103+1081C=
NM_001040875.2:c.640C= NP_001035808.1:p.Arg214=
NM_018972.2:c.844C= NP_061845.2:p.Arg282=
NR_046346.1:n.778C=
XM_011517551.1:c.1138C= XP_011515853.1:p.Arg380=
XM_011517552.1:c.517C= XP_011515854.1:p.Arg173=
NM_001040875.3:c.640C= NP_001035808.1:p.Arg214=
NM_001362929.1:c.517C= NP_001349858.1:p.Arg173=
NM_001362930.1:c.670C= NP_001349859.1:p.Arg224=
NM_001362931.1:c.694+1081C= NP_001349860.1:n.694+1081C=
NM_001362932.1:c.517C= NP_001349861.1:p.Arg173=
NM_018972.3:c.844C= NP_061845.2:p.Arg282=
NM_001362931.2:c.694+1081C= NP_001349860.1:n.694+1081C=
NM_018972.4:c.844C= MANE Select NP_061845.2:p.Arg282=
NM_001040875.4:c.640C= NP_001035808.1:p.Arg214=
NM_001362929.2:c.517C= NP_001349858.1:p.Arg173=
NM_001362930.2:c.670C= NP_001349859.1:p.Arg224=
NM_001362932.2:c.517C= NP_001349861.1:p.Arg173=