Canonical Allele Identifier: CA371550073

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276277T>A (hg19) ; chr8:g.74364042T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364042T>A , CM000670.2:g.74364042T>A	GRCh38
NC_000008.10:g.75276277T>A , CM000670.1:g.75276277T>A	GRCh37
NC_000008.9:g.75438832T>A	NCBI36
NG_008787.2:g.47913T>A
NG_008787.3:g.47913T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.752T>A MANE Select	ENSP00000220822.7:p.Leu251His
ENST00000434412.3:c.620T>A	ENSP00000417006.3:p.Leu207His
ENST00000520797.6:n.863T>A
ENST00000521096.6:n.608T>A
ENST00000522568.2:c.*424T>A	ENSP00000430136.1:n.*424T>A
ENST00000523640.2:c.165+12721T>A	ENSP00000502017.1:n.165+12721T>A
ENST00000524195.2:c.280+989T>A	ENSP00000502308.1:n.280+989T>A
ENST00000674612.1:c.425T>A	ENSP00000501864.1:p.Leu142His
ENST00000674710.1:c.694+989T>A	ENSP00000502762.1:n.694+989T>A
ENST00000674754.1:c.*2315T>A	ENSP00000502063.1:n.*2315T>A
ENST00000674756.1:c.*366+989T>A	ENSP00000501860.1:n.*366+989T>A
ENST00000674806.1:c.425T>A	ENSP00000502637.1:p.Leu142His
ENST00000674865.1:c.548T>A	ENSP00000502437.1:p.Leu183His
ENST00000674926.1:c.*1384T>A	ENSP00000501799.1:n.*1384T>A
ENST00000674934.1:c.*440T>A	ENSP00000502187.1:n.*440T>A
ENST00000674944.1:c.*1355T>A	ENSP00000501858.1:n.*1355T>A
ENST00000674946.1:c.694+989T>A	ENSP00000501569.1:n.694+989T>A
ENST00000674973.1:c.446T>A	ENSP00000502447.1:p.Leu149His
ENST00000675007.1:c.*490T>A	ENSP00000502119.1:n.*490T>A
ENST00000675060.1:c.*417T>A	ENSP00000501616.1:n.*417T>A
ENST00000675165.1:c.749T>A	ENSP00000502612.1:p.Leu250His
ENST00000675220.1:c.425T>A	ENSP00000502588.1:p.Leu142His
ENST00000675265.1:c.*502T>A	ENSP00000501848.1:n.*502T>A
ENST00000675336.1:c.*238T>A	ENSP00000502120.1:n.*238T>A
ENST00000675376.1:c.425T>A	ENSP00000502838.1:p.Leu142His
ENST00000675463.1:c.830T>A	ENSP00000502327.1:p.Leu277His
ENST00000675472.1:c.*238T>A	ENSP00000501946.1:n.*238T>A
ENST00000675474.1:n.337T>A
ENST00000675560.1:c.*366+989T>A	ENSP00000502118.1:n.*366+989T>A
ENST00000675625.1:c.*424T>A	ENSP00000501626.1:n.*424T>A
ENST00000675633.1:c.*159T>A	ENSP00000501785.1:n.*159T>A
ENST00000675661.1:c.*512T>A	ENSP00000501958.1:n.*512T>A
ENST00000675706.1:n.2710T>A
ENST00000675821.1:c.425T>A	ENSP00000502198.1:p.Leu142His
ENST00000675832.1:c.*424T>A	ENSP00000502041.1:n.*424T>A
ENST00000675928.1:c.578T>A	ENSP00000501568.1:p.Leu193His
ENST00000675944.1:c.548T>A	ENSP00000502673.1:p.Leu183His
ENST00000675999.1:c.694+989T>A	ENSP00000502572.1:n.694+989T>A
ENST00000676049.1:c.*654T>A	ENSP00000501912.1:n.*654T>A
ENST00000676112.1:c.818T>A	ENSP00000502295.1:p.Leu273His
ENST00000676143.1:c.425T>A	ENSP00000502828.1:p.Leu142His
ENST00000676207.1:c.694+989T>A	ENSP00000502638.1:n.694+989T>A
ENST00000676377.1:c.425T>A	ENSP00000502756.1:p.Leu142His
ENST00000676415.1:c.*58T>A	ENSP00000502665.1:n.*58T>A
ENST00000676443.1:c.704T>A	ENSP00000501769.1:p.Leu235His
ENST00000220822.11:c.752T>A	ENSP00000220822.7:p.Leu251His
ENST00000434412.2:c.548T>A	ENSP00000417006.2:p.Leu183His
ENST00000520797.5:n.517T>A
ENST00000521096.5:n.558T>A
ENST00000522568.1:c.*424T>A	ENSP00000430136.1:n.*424T>A
ENST00000524195.1:n.103+989T>A
NM_001040875.2:c.548T>A	NP_001035808.1:p.Leu183His
NM_018972.2:c.752T>A	NP_061845.2:p.Leu251His
NR_046346.1:n.686T>A
XM_011517551.1:c.1046T>A	XP_011515853.1:p.Leu349His
XM_011517552.1:c.425T>A	XP_011515854.1:p.Leu142His
NM_001040875.3:c.548T>A	NP_001035808.1:p.Leu183His
NM_001362929.1:c.425T>A	NP_001349858.1:p.Leu142His
NM_001362930.1:c.578T>A	NP_001349859.1:p.Leu193His
NM_001362931.1:c.694+989T>A	NP_001349860.1:n.694+989T>A
NM_001362932.1:c.425T>A	NP_001349861.1:p.Leu142His
NM_018972.3:c.752T>A	NP_061845.2:p.Leu251His
NM_001362931.2:c.694+989T>A	NP_001349860.1:n.694+989T>A
NM_018972.4:c.752T>A MANE Select	NP_061845.2:p.Leu251His
NM_001040875.4:c.548T>A	NP_001035808.1:p.Leu183His
NM_001362929.2:c.425T>A	NP_001349858.1:p.Leu142His
NM_001362930.2:c.578T>A	NP_001349859.1:p.Leu193His
NM_001362932.2:c.425T>A	NP_001349861.1:p.Leu142His