Canonical Allele Identifier: CA461772397
Gene: GDAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1809503159
MyVariant Identifiers: chr8:g.75276311G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.74364076G>A , CM000670.2:g.74364076G>A GRCh38
NC_000008.10:g.75276311G>A , CM000670.1:g.75276311G>A GRCh37
NC_000008.9:g.75438866G>A NCBI36
NG_008787.2:g.47947G>A
NG_008787.3:g.47947G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220822.12:c.786G>A MANE Select ENSP00000220822.7:p.Gly262=
ENST00000434412.3:c.654G>A ENSP00000417006.3:p.Gly218=
ENST00000520797.6:n.897G>A
ENST00000521096.6:n.642G>A
ENST00000522568.2:c.*458G>A ENSP00000430136.1:n.*458G>A
ENST00000523640.2:c.165+12755G>A ENSP00000502017.1:n.165+12755G>A
ENST00000524195.2:c.280+1023G>A ENSP00000502308.1:n.280+1023G>A
ENST00000674612.1:c.459G>A ENSP00000501864.1:p.Gly153=
ENST00000674710.1:c.694+1023G>A ENSP00000502762.1:n.694+1023G>A
ENST00000674754.1:c.*2349G>A ENSP00000502063.1:n.*2349G>A
ENST00000674756.1:c.*366+1023G>A ENSP00000501860.1:n.*366+1023G>A
ENST00000674806.1:c.459G>A ENSP00000502637.1:p.Gly153=
ENST00000674865.1:c.582G>A ENSP00000502437.1:p.Gly194=
ENST00000674926.1:c.*1418G>A ENSP00000501799.1:n.*1418G>A
ENST00000674934.1:c.*474G>A ENSP00000502187.1:n.*474G>A
ENST00000674944.1:c.*1389G>A ENSP00000501858.1:n.*1389G>A
ENST00000674946.1:c.694+1023G>A ENSP00000501569.1:n.694+1023G>A
ENST00000674973.1:c.480G>A ENSP00000502447.1:p.Gly160=
ENST00000675007.1:c.*524G>A ENSP00000502119.1:n.*524G>A
ENST00000675060.1:c.*451G>A ENSP00000501616.1:n.*451G>A
ENST00000675165.1:c.783G>A ENSP00000502612.1:p.Gly261=
ENST00000675220.1:c.459G>A ENSP00000502588.1:p.Gly153=
ENST00000675265.1:c.*536G>A ENSP00000501848.1:n.*536G>A
ENST00000675336.1:c.*272G>A ENSP00000502120.1:n.*272G>A
ENST00000675376.1:c.459G>A ENSP00000502838.1:p.Gly153=
ENST00000675463.1:c.864G>A ENSP00000502327.1:p.Gly288=
ENST00000675472.1:c.*272G>A ENSP00000501946.1:n.*272G>A
ENST00000675474.1:n.371G>A
ENST00000675560.1:c.*366+1023G>A ENSP00000502118.1:n.*366+1023G>A
ENST00000675625.1:c.*458G>A ENSP00000501626.1:n.*458G>A
ENST00000675633.1:c.*193G>A ENSP00000501785.1:n.*193G>A
ENST00000675661.1:c.*546G>A ENSP00000501958.1:n.*546G>A
ENST00000675706.1:n.2744G>A
ENST00000675821.1:c.459G>A ENSP00000502198.1:p.Gly153=
ENST00000675832.1:c.*458G>A ENSP00000502041.1:n.*458G>A
ENST00000675928.1:c.612G>A ENSP00000501568.1:p.Gly204=
ENST00000675944.1:c.582G>A ENSP00000502673.1:p.Gly194=
ENST00000675999.1:c.694+1023G>A ENSP00000502572.1:n.694+1023G>A
ENST00000676049.1:c.*688G>A ENSP00000501912.1:n.*688G>A
ENST00000676112.1:c.852G>A ENSP00000502295.1:p.Gly284=
ENST00000676143.1:c.459G>A ENSP00000502828.1:p.Gly153=
ENST00000676207.1:c.694+1023G>A ENSP00000502638.1:n.694+1023G>A
ENST00000676377.1:c.459G>A ENSP00000502756.1:p.Gly153=
ENST00000676415.1:c.*92G>A ENSP00000502665.1:n.*92G>A
ENST00000676443.1:c.738G>A ENSP00000501769.1:p.Gly246=
ENST00000220822.11:c.786G>A ENSP00000220822.7:p.Gly262=
ENST00000434412.2:c.582G>A ENSP00000417006.2:p.Gly194=
ENST00000520797.5:n.551G>A
ENST00000521096.5:n.592G>A
ENST00000522568.1:c.*458G>A ENSP00000430136.1:n.*458G>A
ENST00000524195.1:n.103+1023G>A
NM_001040875.2:c.582G>A NP_001035808.1:p.Gly194=
NM_018972.2:c.786G>A NP_061845.2:p.Gly262=
NR_046346.1:n.720G>A
XM_011517551.1:c.1080G>A XP_011515853.1:p.Gly360=
XM_011517552.1:c.459G>A XP_011515854.1:p.Gly153=
NM_001040875.3:c.582G>A NP_001035808.1:p.Gly194=
NM_001362929.1:c.459G>A NP_001349858.1:p.Gly153=
NM_001362930.1:c.612G>A NP_001349859.1:p.Gly204=
NM_001362931.1:c.694+1023G>A NP_001349860.1:n.694+1023G>A
NM_001362932.1:c.459G>A NP_001349861.1:p.Gly153=
NM_018972.3:c.786G>A NP_061845.2:p.Gly262=
NM_001362931.2:c.694+1023G>A NP_001349860.1:n.694+1023G>A
NM_018972.4:c.786G>A MANE Select NP_061845.2:p.Gly262=
NM_001040875.4:c.582G>A NP_001035808.1:p.Gly194=
NM_001362929.2:c.459G>A NP_001349858.1:p.Gly153=
NM_001362930.2:c.612G>A NP_001349859.1:p.Gly204=
NM_001362932.2:c.459G>A NP_001349861.1:p.Gly153=