Canonical Allele Identifier: CA461772355

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276293T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364058T>C , CM000670.2:g.74364058T>C	GRCh38
NC_000008.10:g.75276293T>C , CM000670.1:g.75276293T>C	GRCh37
NC_000008.9:g.75438848T>C	NCBI36
NG_008787.2:g.47929T>C
NG_008787.3:g.47929T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.768T>C MANE Select	ENSP00000220822.7:p.His256=
ENST00000434412.3:c.636T>C	ENSP00000417006.3:p.His212=
ENST00000520797.6:n.879T>C
ENST00000521096.6:n.624T>C
ENST00000522568.2:c.*440T>C	ENSP00000430136.1:n.*440T>C
ENST00000523640.2:c.165+12737T>C	ENSP00000502017.1:n.165+12737T>C
ENST00000524195.2:c.280+1005T>C	ENSP00000502308.1:n.280+1005T>C
ENST00000674612.1:c.441T>C	ENSP00000501864.1:p.His147=
ENST00000674710.1:c.694+1005T>C	ENSP00000502762.1:n.694+1005T>C
ENST00000674754.1:c.*2331T>C	ENSP00000502063.1:n.*2331T>C
ENST00000674756.1:c.*366+1005T>C	ENSP00000501860.1:n.*366+1005T>C
ENST00000674806.1:c.441T>C	ENSP00000502637.1:p.His147=
ENST00000674865.1:c.564T>C	ENSP00000502437.1:p.His188=
ENST00000674926.1:c.*1400T>C	ENSP00000501799.1:n.*1400T>C
ENST00000674934.1:c.*456T>C	ENSP00000502187.1:n.*456T>C
ENST00000674944.1:c.*1371T>C	ENSP00000501858.1:n.*1371T>C
ENST00000674946.1:c.694+1005T>C	ENSP00000501569.1:n.694+1005T>C
ENST00000674973.1:c.462T>C	ENSP00000502447.1:p.His154=
ENST00000675007.1:c.*506T>C	ENSP00000502119.1:n.*506T>C
ENST00000675060.1:c.*433T>C	ENSP00000501616.1:n.*433T>C
ENST00000675165.1:c.765T>C	ENSP00000502612.1:p.His255=
ENST00000675220.1:c.441T>C	ENSP00000502588.1:p.His147=
ENST00000675265.1:c.*518T>C	ENSP00000501848.1:n.*518T>C
ENST00000675336.1:c.*254T>C	ENSP00000502120.1:n.*254T>C
ENST00000675376.1:c.441T>C	ENSP00000502838.1:p.His147=
ENST00000675463.1:c.846T>C	ENSP00000502327.1:p.His282=
ENST00000675472.1:c.*254T>C	ENSP00000501946.1:n.*254T>C
ENST00000675474.1:n.353T>C
ENST00000675560.1:c.*366+1005T>C	ENSP00000502118.1:n.*366+1005T>C
ENST00000675625.1:c.*440T>C	ENSP00000501626.1:n.*440T>C
ENST00000675633.1:c.*175T>C	ENSP00000501785.1:n.*175T>C
ENST00000675661.1:c.*528T>C	ENSP00000501958.1:n.*528T>C
ENST00000675706.1:n.2726T>C
ENST00000675821.1:c.441T>C	ENSP00000502198.1:p.His147=
ENST00000675832.1:c.*440T>C	ENSP00000502041.1:n.*440T>C
ENST00000675928.1:c.594T>C	ENSP00000501568.1:p.His198=
ENST00000675944.1:c.564T>C	ENSP00000502673.1:p.His188=
ENST00000675999.1:c.694+1005T>C	ENSP00000502572.1:n.694+1005T>C
ENST00000676049.1:c.*670T>C	ENSP00000501912.1:n.*670T>C
ENST00000676112.1:c.834T>C	ENSP00000502295.1:p.His278=
ENST00000676143.1:c.441T>C	ENSP00000502828.1:p.His147=
ENST00000676207.1:c.694+1005T>C	ENSP00000502638.1:n.694+1005T>C
ENST00000676377.1:c.441T>C	ENSP00000502756.1:p.His147=
ENST00000676415.1:c.*74T>C	ENSP00000502665.1:n.*74T>C
ENST00000676443.1:c.720T>C	ENSP00000501769.1:p.His240=
ENST00000220822.11:c.768T>C	ENSP00000220822.7:p.His256=
ENST00000434412.2:c.564T>C	ENSP00000417006.2:p.His188=
ENST00000520797.5:n.533T>C
ENST00000521096.5:n.574T>C
ENST00000522568.1:c.*440T>C	ENSP00000430136.1:n.*440T>C
ENST00000524195.1:n.103+1005T>C
NM_001040875.2:c.564T>C	NP_001035808.1:p.His188=
NM_018972.2:c.768T>C	NP_061845.2:p.His256=
NR_046346.1:n.702T>C
XM_011517551.1:c.1062T>C	XP_011515853.1:p.His354=
XM_011517552.1:c.441T>C	XP_011515854.1:p.His147=
NM_001040875.3:c.564T>C	NP_001035808.1:p.His188=
NM_001362929.1:c.441T>C	NP_001349858.1:p.His147=
NM_001362930.1:c.594T>C	NP_001349859.1:p.His198=
NM_001362931.1:c.694+1005T>C	NP_001349860.1:n.694+1005T>C
NM_001362932.1:c.441T>C	NP_001349861.1:p.His147=
NM_018972.3:c.768T>C	NP_061845.2:p.His256=
NM_001362931.2:c.694+1005T>C	NP_001349860.1:n.694+1005T>C
NM_018972.4:c.768T>C MANE Select	NP_061845.2:p.His256=
NM_001040875.4:c.564T>C	NP_001035808.1:p.His188=
NM_001362929.2:c.441T>C	NP_001349858.1:p.His147=
NM_001362930.2:c.594T>C	NP_001349859.1:p.His198=
NM_001362932.2:c.441T>C	NP_001349861.1:p.His147=