Canonical Allele Identifier: CA461772233

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276227C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74363992C>A , CM000670.2:g.74363992C>A	GRCh38
NC_000008.10:g.75276227C>A , CM000670.1:g.75276227C>A	GRCh37
NC_000008.9:g.75438782C>A	NCBI36
NG_008787.2:g.47863C>A
NG_008787.3:g.47863C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.702C>A MANE Select	ENSP00000220822.7:p.Gly234=
ENST00000434412.3:c.570C>A	ENSP00000417006.3:p.Gly190=
ENST00000520797.6:n.813C>A
ENST00000521096.6:n.558C>A
ENST00000522568.2:c.*374C>A	ENSP00000430136.1:n.*374C>A
ENST00000523640.2:c.165+12671C>A	ENSP00000502017.1:n.165+12671C>A
ENST00000524195.2:c.280+939C>A	ENSP00000502308.1:n.280+939C>A
ENST00000674612.1:c.375C>A	ENSP00000501864.1:p.Gly125=
ENST00000674710.1:c.694+939C>A	ENSP00000502762.1:n.694+939C>A
ENST00000674754.1:c.*2265C>A	ENSP00000502063.1:n.*2265C>A
ENST00000674756.1:c.*366+939C>A	ENSP00000501860.1:n.*366+939C>A
ENST00000674806.1:c.375C>A	ENSP00000502637.1:p.Gly125=
ENST00000674865.1:c.498C>A	ENSP00000502437.1:p.Gly166=
ENST00000674926.1:c.*1334C>A	ENSP00000501799.1:n.*1334C>A
ENST00000674934.1:c.*390C>A	ENSP00000502187.1:n.*390C>A
ENST00000674944.1:c.*1305C>A	ENSP00000501858.1:n.*1305C>A
ENST00000674946.1:c.694+939C>A	ENSP00000501569.1:n.694+939C>A
ENST00000674973.1:c.396C>A	ENSP00000502447.1:p.Gly132=
ENST00000675007.1:c.*440C>A	ENSP00000502119.1:n.*440C>A
ENST00000675060.1:c.*367C>A	ENSP00000501616.1:n.*367C>A
ENST00000675165.1:c.699C>A	ENSP00000502612.1:p.Gly233=
ENST00000675220.1:c.375C>A	ENSP00000502588.1:p.Gly125=
ENST00000675265.1:c.*452C>A	ENSP00000501848.1:n.*452C>A
ENST00000675336.1:c.*188C>A	ENSP00000502120.1:n.*188C>A
ENST00000675376.1:c.375C>A	ENSP00000502838.1:p.Gly125=
ENST00000675463.1:c.780C>A	ENSP00000502327.1:p.Gly260=
ENST00000675472.1:c.*188C>A	ENSP00000501946.1:n.*188C>A
ENST00000675474.1:n.287C>A
ENST00000675560.1:c.*366+939C>A	ENSP00000502118.1:n.*366+939C>A
ENST00000675625.1:c.*374C>A	ENSP00000501626.1:n.*374C>A
ENST00000675633.1:c.*109C>A	ENSP00000501785.1:n.*109C>A
ENST00000675661.1:c.*462C>A	ENSP00000501958.1:n.*462C>A
ENST00000675706.1:n.2660C>A
ENST00000675821.1:c.375C>A	ENSP00000502198.1:p.Gly125=
ENST00000675832.1:c.*374C>A	ENSP00000502041.1:n.*374C>A
ENST00000675928.1:c.528C>A	ENSP00000501568.1:p.Gly176=
ENST00000675944.1:c.498C>A	ENSP00000502673.1:p.Gly166=
ENST00000675999.1:c.694+939C>A	ENSP00000502572.1:n.694+939C>A
ENST00000676049.1:c.*604C>A	ENSP00000501912.1:n.*604C>A
ENST00000676112.1:c.768C>A	ENSP00000502295.1:p.Gly256=
ENST00000676143.1:c.375C>A	ENSP00000502828.1:p.Gly125=
ENST00000676207.1:c.694+939C>A	ENSP00000502638.1:n.694+939C>A
ENST00000676377.1:c.375C>A	ENSP00000502756.1:p.Gly125=
ENST00000676415.1:c.*8C>A	ENSP00000502665.1:n.*8C>A
ENST00000676443.1:c.654C>A	ENSP00000501769.1:p.Gly218=
ENST00000220822.11:c.702C>A	ENSP00000220822.7:p.Gly234=
ENST00000434412.2:c.498C>A	ENSP00000417006.2:p.Gly166=
ENST00000520797.5:n.467C>A
ENST00000521096.5:n.508C>A
ENST00000522568.1:c.*374C>A	ENSP00000430136.1:n.*374C>A
ENST00000524195.1:n.103+939C>A
ENST00000524366.5:n.546C>A
NM_001040875.2:c.498C>A	NP_001035808.1:p.Gly166=
NM_018972.2:c.702C>A	NP_061845.2:p.Gly234=
NR_046346.1:n.636C>A
XM_011517551.1:c.996C>A	XP_011515853.1:p.Gly332=
XM_011517552.1:c.375C>A	XP_011515854.1:p.Gly125=
NM_001040875.3:c.498C>A	NP_001035808.1:p.Gly166=
NM_001362929.1:c.375C>A	NP_001349858.1:p.Gly125=
NM_001362930.1:c.528C>A	NP_001349859.1:p.Gly176=
NM_001362931.1:c.694+939C>A	NP_001349860.1:n.694+939C>A
NM_001362932.1:c.375C>A	NP_001349861.1:p.Gly125=
NM_018972.3:c.702C>A	NP_061845.2:p.Gly234=
NM_001362931.2:c.694+939C>A	NP_001349860.1:n.694+939C>A
NM_018972.4:c.702C>A MANE Select	NP_061845.2:p.Gly234=
NM_001040875.4:c.498C>A	NP_001035808.1:p.Gly166=
NM_001362929.2:c.375C>A	NP_001349858.1:p.Gly125=
NM_001362930.2:c.528C>A	NP_001349859.1:p.Gly176=
NM_001362932.2:c.375C>A	NP_001349861.1:p.Gly125=