Canonical Allele Identifier: CA371549959

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276252T>A (hg19) ; chr8:g.74364017T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364017T>A , CM000670.2:g.74364017T>A	GRCh38
NC_000008.10:g.75276252T>A , CM000670.1:g.75276252T>A	GRCh37
NC_000008.9:g.75438807T>A	NCBI36
NG_008787.2:g.47888T>A
NG_008787.3:g.47888T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.727T>A MANE Select	ENSP00000220822.7:p.Ser243Thr
ENST00000434412.3:c.595T>A	ENSP00000417006.3:p.Ser199Thr
ENST00000520797.6:n.838T>A
ENST00000521096.6:n.583T>A
ENST00000522568.2:c.*399T>A	ENSP00000430136.1:n.*399T>A
ENST00000523640.2:c.165+12696T>A	ENSP00000502017.1:n.165+12696T>A
ENST00000524195.2:c.280+964T>A	ENSP00000502308.1:n.280+964T>A
ENST00000674612.1:c.400T>A	ENSP00000501864.1:p.Ser134Thr
ENST00000674710.1:c.694+964T>A	ENSP00000502762.1:n.694+964T>A
ENST00000674754.1:c.*2290T>A	ENSP00000502063.1:n.*2290T>A
ENST00000674756.1:c.*366+964T>A	ENSP00000501860.1:n.*366+964T>A
ENST00000674806.1:c.400T>A	ENSP00000502637.1:p.Ser134Thr
ENST00000674865.1:c.523T>A	ENSP00000502437.1:p.Ser175Thr
ENST00000674926.1:c.*1359T>A	ENSP00000501799.1:n.*1359T>A
ENST00000674934.1:c.*415T>A	ENSP00000502187.1:n.*415T>A
ENST00000674944.1:c.*1330T>A	ENSP00000501858.1:n.*1330T>A
ENST00000674946.1:c.694+964T>A	ENSP00000501569.1:n.694+964T>A
ENST00000674973.1:c.421T>A	ENSP00000502447.1:p.Ser141Thr
ENST00000675007.1:c.*465T>A	ENSP00000502119.1:n.*465T>A
ENST00000675060.1:c.*392T>A	ENSP00000501616.1:n.*392T>A
ENST00000675165.1:c.724T>A	ENSP00000502612.1:p.Ser242Thr
ENST00000675220.1:c.400T>A	ENSP00000502588.1:p.Ser134Thr
ENST00000675265.1:c.*477T>A	ENSP00000501848.1:n.*477T>A
ENST00000675336.1:c.*213T>A	ENSP00000502120.1:n.*213T>A
ENST00000675376.1:c.400T>A	ENSP00000502838.1:p.Ser134Thr
ENST00000675463.1:c.805T>A	ENSP00000502327.1:p.Ser269Thr
ENST00000675472.1:c.*213T>A	ENSP00000501946.1:n.*213T>A
ENST00000675474.1:n.312T>A
ENST00000675560.1:c.*366+964T>A	ENSP00000502118.1:n.*366+964T>A
ENST00000675625.1:c.*399T>A	ENSP00000501626.1:n.*399T>A
ENST00000675633.1:c.*134T>A	ENSP00000501785.1:n.*134T>A
ENST00000675661.1:c.*487T>A	ENSP00000501958.1:n.*487T>A
ENST00000675706.1:n.2685T>A
ENST00000675821.1:c.400T>A	ENSP00000502198.1:p.Ser134Thr
ENST00000675832.1:c.*399T>A	ENSP00000502041.1:n.*399T>A
ENST00000675928.1:c.553T>A	ENSP00000501568.1:p.Ser185Thr
ENST00000675944.1:c.523T>A	ENSP00000502673.1:p.Ser175Thr
ENST00000675999.1:c.694+964T>A	ENSP00000502572.1:n.694+964T>A
ENST00000676049.1:c.*629T>A	ENSP00000501912.1:n.*629T>A
ENST00000676112.1:c.793T>A	ENSP00000502295.1:p.Ser265Thr
ENST00000676143.1:c.400T>A	ENSP00000502828.1:p.Ser134Thr
ENST00000676207.1:c.694+964T>A	ENSP00000502638.1:n.694+964T>A
ENST00000676377.1:c.400T>A	ENSP00000502756.1:p.Ser134Thr
ENST00000676415.1:c.*33T>A	ENSP00000502665.1:n.*33T>A
ENST00000676443.1:c.679T>A	ENSP00000501769.1:p.Ser227Thr
ENST00000220822.11:c.727T>A	ENSP00000220822.7:p.Ser243Thr
ENST00000434412.2:c.523T>A	ENSP00000417006.2:p.Ser175Thr
ENST00000520797.5:n.492T>A
ENST00000521096.5:n.533T>A
ENST00000522568.1:c.*399T>A	ENSP00000430136.1:n.*399T>A
ENST00000524195.1:n.103+964T>A
ENST00000524366.5:n.571T>A
NM_001040875.2:c.523T>A	NP_001035808.1:p.Ser175Thr
NM_018972.2:c.727T>A	NP_061845.2:p.Ser243Thr
NR_046346.1:n.661T>A
XM_011517551.1:c.1021T>A	XP_011515853.1:p.Ser341Thr
XM_011517552.1:c.400T>A	XP_011515854.1:p.Ser134Thr
NM_001040875.3:c.523T>A	NP_001035808.1:p.Ser175Thr
NM_001362929.1:c.400T>A	NP_001349858.1:p.Ser134Thr
NM_001362930.1:c.553T>A	NP_001349859.1:p.Ser185Thr
NM_001362931.1:c.694+964T>A	NP_001349860.1:n.694+964T>A
NM_001362932.1:c.400T>A	NP_001349861.1:p.Ser134Thr
NM_018972.3:c.727T>A	NP_061845.2:p.Ser243Thr
NM_001362931.2:c.694+964T>A	NP_001349860.1:n.694+964T>A
NM_018972.4:c.727T>A MANE Select	NP_061845.2:p.Ser243Thr
NM_001040875.4:c.523T>A	NP_001035808.1:p.Ser175Thr
NM_001362929.2:c.400T>A	NP_001349858.1:p.Ser134Thr
NM_001362930.2:c.553T>A	NP_001349859.1:p.Ser185Thr
NM_001362932.2:c.400T>A	NP_001349861.1:p.Ser134Thr