Canonical Allele Identifier: CA253040
Gene: GDAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4201
ClinVar RCV Id: RCV000004421 RCV003447065
dbSNP Id: rs121908113
MyVariant Identifiers: chr8:g.75275246C>G (hg19) chr8:g.74363011C>G (hg38)
PubMed: PMID:18231710
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.74363011C>G , CM000670.2:g.74363011C>G GRCh38
NC_000008.10:g.75275246C>G , CM000670.1:g.75275246C>G GRCh37
NC_000008.9:g.75437801C>G NCBI36
NG_008787.2:g.46882C>G
NG_008787.3:g.46882C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000220822.12:c.652C>G MANE Select ENSP00000220822.7:p.Gln218Glu
ENST00000434412.3:c.520C>G ENSP00000417006.3:p.Gln174Glu
ENST00000520797.6:n.763C>G
ENST00000521096.6:n.508C>G
ENST00000522568.2:c.*324C>G ENSP00000430136.1:n.*324C>G
ENST00000523640.2:c.165+11690C>G ENSP00000502017.1:n.165+11690C>G
ENST00000524195.2:c.238C>G ENSP00000502308.1:p.Gln80Glu
ENST00000674612.1:c.325C>G ENSP00000501864.1:p.Gln109Glu
ENST00000674710.1:c.652C>G ENSP00000502762.1:p.Gln218Glu
ENST00000674754.1:c.*1284C>G ENSP00000502063.1:n.*1284C>G
ENST00000674756.1:c.*324C>G ENSP00000501860.1:n.*324C>G
ENST00000674806.1:c.325C>G ENSP00000502637.1:p.Gln109Glu
ENST00000674865.1:c.448C>G ENSP00000502437.1:p.Gln150Glu
ENST00000674926.1:c.*1284C>G ENSP00000501799.1:n.*1284C>G
ENST00000674934.1:c.*340C>G ENSP00000502187.1:n.*340C>G
ENST00000674944.1:c.*324C>G ENSP00000501858.1:n.*324C>G
ENST00000674946.1:c.652C>G ENSP00000501569.1:p.Gln218Glu
ENST00000674973.1:c.346C>G ENSP00000502447.1:p.Gln116Glu
ENST00000675007.1:c.*324C>G ENSP00000502119.1:n.*324C>G
ENST00000675060.1:c.*317C>G ENSP00000501616.1:n.*317C>G
ENST00000675165.1:c.652C>G ENSP00000502612.1:p.Gln218Glu
ENST00000675220.1:c.325C>G ENSP00000502588.1:p.Gln109Glu
ENST00000675265.1:c.*324C>G ENSP00000501848.1:n.*324C>G
ENST00000675336.1:c.*138C>G ENSP00000502120.1:n.*138C>G
ENST00000675376.1:c.325C>G ENSP00000502838.1:p.Gln109Glu
ENST00000675463.1:c.652C>G ENSP00000502327.1:p.Gln218Glu
ENST00000675472.1:c.*138C>G ENSP00000501946.1:n.*138C>G
ENST00000675474.1:n.171C>G
ENST00000675560.1:c.*324C>G ENSP00000502118.1:n.*324C>G
ENST00000675625.1:c.*324C>G ENSP00000501626.1:n.*324C>G
ENST00000675633.1:c.*59C>G ENSP00000501785.1:n.*59C>G
ENST00000675661.1:c.*412C>G ENSP00000501958.1:n.*412C>G
ENST00000675706.1:n.1679C>G
ENST00000675821.1:c.325C>G ENSP00000502198.1:p.Gln109Glu
ENST00000675832.1:c.*324C>G ENSP00000502041.1:n.*324C>G
ENST00000675928.1:c.478C>G ENSP00000501568.1:p.Gln160Glu
ENST00000675944.1:c.448C>G ENSP00000502673.1:p.Gln150Glu
ENST00000675999.1:c.652C>G ENSP00000502572.1:p.Gln218Glu
ENST00000676049.1:c.*554C>G ENSP00000501912.1:n.*554C>G
ENST00000676112.1:c.652C>G ENSP00000502295.1:p.Gln218Glu
ENST00000676143.1:c.325C>G ENSP00000502828.1:p.Gln109Glu
ENST00000676207.1:c.652C>G ENSP00000502638.1:p.Gln218Glu
ENST00000676377.1:c.325C>G ENSP00000502756.1:p.Gln109Glu
ENST00000676415.1:c.652C>G ENSP00000502665.1:p.Gln218Glu
ENST00000676443.1:c.604C>G ENSP00000501769.1:p.Gln202Glu
ENST00000220822.11:c.652C>G ENSP00000220822.7:p.Gln218Glu
ENST00000434412.2:c.448C>G ENSP00000417006.2:p.Gln150Glu
ENST00000520797.5:n.417C>G
ENST00000521096.5:n.458C>G
ENST00000522568.1:c.*324C>G ENSP00000430136.1:n.*324C>G
ENST00000524195.1:n.61C>G
ENST00000524366.5:n.496C>G
NM_001040875.2:c.448C>G NP_001035808.1:p.Gln150Glu
NM_018972.2:c.652C>G NP_061845.2:p.Gln218Glu
NR_046346.1:n.586C>G
XM_011517551.1:c.946C>G XP_011515853.1:p.Gln316Glu
XM_011517552.1:c.325C>G XP_011515854.1:p.Gln109Glu
NM_001040875.3:c.448C>G NP_001035808.1:p.Gln150Glu
NM_001362929.1:c.325C>G NP_001349858.1:p.Gln109Glu
NM_001362930.1:c.478C>G NP_001349859.1:p.Gln160Glu
NM_001362931.1:c.652C>G NP_001349860.1:p.Gln218Glu
NM_001362932.1:c.325C>G NP_001349861.1:p.Gln109Glu
NM_018972.3:c.652C>G NP_061845.2:p.Gln218Glu
NM_001362931.2:c.652C>G NP_001349860.1:p.Gln218Glu
NM_018972.4:c.652C>G MANE Select NP_061845.2:p.Gln218Glu
NM_001040875.4:c.448C>G NP_001035808.1:p.Gln150Glu
NM_001362929.2:c.325C>G NP_001349858.1:p.Gln109Glu
NM_001362930.2:c.478C>G NP_001349859.1:p.Gln160Glu
NM_001362932.2:c.325C>G NP_001349861.1:p.Gln109Glu
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