Canonical Allele Identifier: CA371549863

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276233A>T (hg19) ; chr8:g.74363998A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74363998A>T , CM000670.2:g.74363998A>T	GRCh38
NC_000008.10:g.75276233A>T , CM000670.1:g.75276233A>T	GRCh37
NC_000008.9:g.75438788A>T	NCBI36
NG_008787.2:g.47869A>T
NG_008787.3:g.47869A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.708A>T MANE Select	ENSP00000220822.7:p.Gln236His
ENST00000434412.3:c.576A>T	ENSP00000417006.3:p.Gln192His
ENST00000520797.6:n.819A>T
ENST00000521096.6:n.564A>T
ENST00000522568.2:c.*380A>T	ENSP00000430136.1:n.*380A>T
ENST00000523640.2:c.165+12677A>T	ENSP00000502017.1:n.165+12677A>T
ENST00000524195.2:c.280+945A>T	ENSP00000502308.1:n.280+945A>T
ENST00000674612.1:c.381A>T	ENSP00000501864.1:p.Gln127His
ENST00000674710.1:c.694+945A>T	ENSP00000502762.1:n.694+945A>T
ENST00000674754.1:c.*2271A>T	ENSP00000502063.1:n.*2271A>T
ENST00000674756.1:c.*366+945A>T	ENSP00000501860.1:n.*366+945A>T
ENST00000674806.1:c.381A>T	ENSP00000502637.1:p.Gln127His
ENST00000674865.1:c.504A>T	ENSP00000502437.1:p.Gln168His
ENST00000674926.1:c.*1340A>T	ENSP00000501799.1:n.*1340A>T
ENST00000674934.1:c.*396A>T	ENSP00000502187.1:n.*396A>T
ENST00000674944.1:c.*1311A>T	ENSP00000501858.1:n.*1311A>T
ENST00000674946.1:c.694+945A>T	ENSP00000501569.1:n.694+945A>T
ENST00000674973.1:c.402A>T	ENSP00000502447.1:p.Gln134His
ENST00000675007.1:c.*446A>T	ENSP00000502119.1:n.*446A>T
ENST00000675060.1:c.*373A>T	ENSP00000501616.1:n.*373A>T
ENST00000675165.1:c.705A>T	ENSP00000502612.1:p.Gln235His
ENST00000675220.1:c.381A>T	ENSP00000502588.1:p.Gln127His
ENST00000675265.1:c.*458A>T	ENSP00000501848.1:n.*458A>T
ENST00000675336.1:c.*194A>T	ENSP00000502120.1:n.*194A>T
ENST00000675376.1:c.381A>T	ENSP00000502838.1:p.Gln127His
ENST00000675463.1:c.786A>T	ENSP00000502327.1:p.Gln262His
ENST00000675472.1:c.*194A>T	ENSP00000501946.1:n.*194A>T
ENST00000675474.1:n.293A>T
ENST00000675560.1:c.*366+945A>T	ENSP00000502118.1:n.*366+945A>T
ENST00000675625.1:c.*380A>T	ENSP00000501626.1:n.*380A>T
ENST00000675633.1:c.*115A>T	ENSP00000501785.1:n.*115A>T
ENST00000675661.1:c.*468A>T	ENSP00000501958.1:n.*468A>T
ENST00000675706.1:n.2666A>T
ENST00000675821.1:c.381A>T	ENSP00000502198.1:p.Gln127His
ENST00000675832.1:c.*380A>T	ENSP00000502041.1:n.*380A>T
ENST00000675928.1:c.534A>T	ENSP00000501568.1:p.Gln178His
ENST00000675944.1:c.504A>T	ENSP00000502673.1:p.Gln168His
ENST00000675999.1:c.694+945A>T	ENSP00000502572.1:n.694+945A>T
ENST00000676049.1:c.*610A>T	ENSP00000501912.1:n.*610A>T
ENST00000676112.1:c.774A>T	ENSP00000502295.1:p.Gln258His
ENST00000676143.1:c.381A>T	ENSP00000502828.1:p.Gln127His
ENST00000676207.1:c.694+945A>T	ENSP00000502638.1:n.694+945A>T
ENST00000676377.1:c.381A>T	ENSP00000502756.1:p.Gln127His
ENST00000676415.1:c.*14A>T	ENSP00000502665.1:n.*14A>T
ENST00000676443.1:c.660A>T	ENSP00000501769.1:p.Gln220His
ENST00000220822.11:c.708A>T	ENSP00000220822.7:p.Gln236His
ENST00000434412.2:c.504A>T	ENSP00000417006.2:p.Gln168His
ENST00000520797.5:n.473A>T
ENST00000521096.5:n.514A>T
ENST00000522568.1:c.*380A>T	ENSP00000430136.1:n.*380A>T
ENST00000524195.1:n.103+945A>T
ENST00000524366.5:n.552A>T
NM_001040875.2:c.504A>T	NP_001035808.1:p.Gln168His
NM_018972.2:c.708A>T	NP_061845.2:p.Gln236His
NR_046346.1:n.642A>T
XM_011517551.1:c.1002A>T	XP_011515853.1:p.Gln334His
XM_011517552.1:c.381A>T	XP_011515854.1:p.Gln127His
NM_001040875.3:c.504A>T	NP_001035808.1:p.Gln168His
NM_001362929.1:c.381A>T	NP_001349858.1:p.Gln127His
NM_001362930.1:c.534A>T	NP_001349859.1:p.Gln178His
NM_001362931.1:c.694+945A>T	NP_001349860.1:n.694+945A>T
NM_001362932.1:c.381A>T	NP_001349861.1:p.Gln127His
NM_018972.3:c.708A>T	NP_061845.2:p.Gln236His
NM_001362931.2:c.694+945A>T	NP_001349860.1:n.694+945A>T
NM_018972.4:c.708A>T MANE Select	NP_061845.2:p.Gln236His
NM_001040875.4:c.504A>T	NP_001035808.1:p.Gln168His
NM_001362929.2:c.381A>T	NP_001349858.1:p.Gln127His
NM_001362930.2:c.534A>T	NP_001349859.1:p.Gln178His
NM_001362932.2:c.381A>T	NP_001349861.1:p.Gln127His