Canonical Allele Identifier: CA116688
Gene: GDAP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4195
dbSNP Id: rs28937906

User contributed link-outs

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_001040875.2:c.640C>T VV NP_001035808.1:p.Arg214Cys
NM_018972.2:c.844C>T VV NP_061845.2:p.Arg282Cys
NR_046346.1:n.778C>T
XM_011517551.1:c.1138C>T XP_011515853.1:p.Arg380Cys
XM_011517552.1:c.517C>T XP_011515854.1:p.Arg173Cys
NM_001040875.3:c.640C>T VV NP_001035808.1:p.Arg214Cys
NM_001362929.1:c.517C>T VV NP_001349858.1:p.Arg173Cys
NM_001362930.1:c.670C>T VV NP_001349859.1:p.Arg224Cys
NM_001362931.1:c.694+1081C>T VV NP_001349860.1:p.=
NM_001362932.1:c.517C>T VV NP_001349861.1:p.Arg173Cys
NM_018972.3:c.844C>T VV NP_061845.2:p.Arg282Cys
ENST00000220822.11:c.844C>T ENSP00000220822.7:p.Arg282Cys
ENST00000434412.2:c.640C>T ENSP00000417006.2:p.Arg214Cys
ENST00000520797.5:n.609C>T
ENST00000521096.5:n.650C>T
ENST00000522568.1:c.*516C>T ENSP00000430136.1:p.=
ENST00000524195.1:n.103+1081C>T