Canonical Allele Identifier: CA1794117891
Gene: GDAP1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_018972.4:c.652C= MANE Select NP_061845.2:p.Gln218=
ENST00000220822.12:c.652C= MANE Select ENSP00000220822.7:p.Gln218=
NM_001040875.2:c.448C= NP_001035808.1:p.Gln150=
NM_001040875.3:c.448C= NP_001035808.1:p.Gln150=
NM_001040875.4:c.448C= NP_001035808.1:p.Gln150=
NM_001362929.1:c.325C= NP_001349858.1:p.Gln109=
NM_001362929.2:c.325C= NP_001349858.1:p.Gln109=
NM_001362930.1:c.478C= NP_001349859.1:p.Gln160=
NM_001362930.2:c.478C= NP_001349859.1:p.Gln160=
NM_001362931.1:c.652C= NP_001349860.1:p.Gln218=
NM_001362931.2:c.652C= NP_001349860.1:p.Gln218=
NM_001362932.1:c.325C= NP_001349861.1:p.Gln109=
NM_001362932.2:c.325C= NP_001349861.1:p.Gln109=
NM_018972.2:c.652C= NP_061845.2:p.Gln218=
NM_018972.3:c.652C= NP_061845.2:p.Gln218=
NR_046346.1:n.586C=
ENST00000220822.11:c.652C= ENSP00000220822.7:p.Gln218=
ENST00000434412.2:c.448C= ENSP00000417006.2:p.Gln150=
ENST00000434412.3:c.520C= ENSP00000417006.3:p.Gln174=
ENST00000520797.5:n.417C=
ENST00000520797.6:n.763C=
ENST00000521096.5:n.458C=
ENST00000521096.6:n.508C=
ENST00000522568.1:c.*324C= ENSP00000430136.1:n.*324C=
ENST00000522568.2:c.*324C= ENSP00000430136.1:n.*324C=
ENST00000523640.2:c.165+11690C= ENSP00000502017.1:n.165+11690C=
ENST00000524195.1:n.61C=
ENST00000524195.2:c.238C= ENSP00000502308.1:p.Gln80=
ENST00000524366.5:n.496C=
ENST00000674612.1:c.325C= ENSP00000501864.1:p.Gln109=
ENST00000674710.1:c.652C= ENSP00000502762.1:p.Gln218=
ENST00000674754.1:c.*1284C= ENSP00000502063.1:n.*1284C=
ENST00000674756.1:c.*324C= ENSP00000501860.1:n.*324C=
ENST00000674806.1:c.325C= ENSP00000502637.1:p.Gln109=
ENST00000674865.1:c.448C= ENSP00000502437.1:p.Gln150=
ENST00000674926.1:c.*1284C= ENSP00000501799.1:n.*1284C=
ENST00000674934.1:c.*340C= ENSP00000502187.1:n.*340C=
ENST00000674944.1:c.*324C= ENSP00000501858.1:n.*324C=
ENST00000674946.1:c.652C= ENSP00000501569.1:p.Gln218=
ENST00000674973.1:c.346C= ENSP00000502447.1:p.Gln116=
ENST00000675007.1:c.*324C= ENSP00000502119.1:n.*324C=
ENST00000675060.1:c.*317C= ENSP00000501616.1:n.*317C=
ENST00000675165.1:c.652C= ENSP00000502612.1:p.Gln218=
ENST00000675220.1:c.325C= ENSP00000502588.1:p.Gln109=
ENST00000675265.1:c.*324C= ENSP00000501848.1:n.*324C=
ENST00000675336.1:c.*138C= ENSP00000502120.1:n.*138C=
ENST00000675376.1:c.325C= ENSP00000502838.1:p.Gln109=
ENST00000675463.1:c.652C= ENSP00000502327.1:p.Gln218=
ENST00000675472.1:c.*138C= ENSP00000501946.1:n.*138C=
ENST00000675474.1:n.171C=
ENST00000675560.1:c.*324C= ENSP00000502118.1:n.*324C=
ENST00000675625.1:c.*324C= ENSP00000501626.1:n.*324C=
ENST00000675633.1:c.*59C= ENSP00000501785.1:n.*59C=
ENST00000675661.1:c.*412C= ENSP00000501958.1:n.*412C=
ENST00000675706.1:n.1679C=
ENST00000675821.1:c.325C= ENSP00000502198.1:p.Gln109=
ENST00000675832.1:c.*324C= ENSP00000502041.1:n.*324C=
ENST00000675928.1:c.478C= ENSP00000501568.1:p.Gln160=
ENST00000675944.1:c.448C= ENSP00000502673.1:p.Gln150=
ENST00000675999.1:c.652C= ENSP00000502572.1:p.Gln218=
ENST00000676049.1:c.*554C= ENSP00000501912.1:n.*554C=
ENST00000676112.1:c.652C= ENSP00000502295.1:p.Gln218=
ENST00000676143.1:c.325C= ENSP00000502828.1:p.Gln109=
ENST00000676207.1:c.652C= ENSP00000502638.1:p.Gln218=
ENST00000676377.1:c.325C= ENSP00000502756.1:p.Gln109=
ENST00000676415.1:c.652C= ENSP00000502665.1:p.Gln218=
ENST00000676443.1:c.604C= ENSP00000501769.1:p.Gln202=
XM_011517551.1:c.946C= XP_011515853.1:p.Gln316=
XM_011517552.1:c.325C= XP_011515854.1:p.Gln109=