Canonical Allele Identifier: CA371550344

Gene: GDAP1

Linked Data

• dbSNP Id: rs1809506011
• gnomAD v3: 8-74364120-A-C
• gnomAD v4: 8-74364120-A-C
• MyVariant Identifiers: chr8:g.75276355A>C (hg19) ; chr8:g.74364120A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364120A>C , CM000670.2:g.74364120A>C	GRCh38
NC_000008.10:g.75276355A>C , CM000670.1:g.75276355A>C	GRCh37
NC_000008.9:g.75438910A>C	NCBI36
NG_008787.2:g.47991A>C
NG_008787.3:g.47991A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.830A>C MANE Select	ENSP00000220822.7:p.Glu277Ala
ENST00000434412.3:c.698A>C	ENSP00000417006.3:p.Glu233Ala
ENST00000520797.6:n.941A>C
ENST00000521096.6:n.686A>C
ENST00000522568.2:c.*502A>C	ENSP00000430136.1:n.*502A>C
ENST00000523640.2:c.165+12799A>C	ENSP00000502017.1:n.165+12799A>C
ENST00000524195.2:c.280+1067A>C	ENSP00000502308.1:n.280+1067A>C
ENST00000674612.1:c.503A>C	ENSP00000501864.1:p.Glu168Ala
ENST00000674710.1:c.694+1067A>C	ENSP00000502762.1:n.694+1067A>C
ENST00000674754.1:c.*2393A>C	ENSP00000502063.1:n.*2393A>C
ENST00000674756.1:c.*366+1067A>C	ENSP00000501860.1:n.*366+1067A>C
ENST00000674806.1:c.503A>C	ENSP00000502637.1:p.Glu168Ala
ENST00000674865.1:c.626A>C	ENSP00000502437.1:p.Glu209Ala
ENST00000674926.1:c.*1462A>C	ENSP00000501799.1:n.*1462A>C
ENST00000674934.1:c.*518A>C	ENSP00000502187.1:n.*518A>C
ENST00000674944.1:c.*1433A>C	ENSP00000501858.1:n.*1433A>C
ENST00000674946.1:c.694+1067A>C	ENSP00000501569.1:n.694+1067A>C
ENST00000674973.1:c.524A>C	ENSP00000502447.1:p.Glu175Ala
ENST00000675007.1:c.*568A>C	ENSP00000502119.1:n.*568A>C
ENST00000675060.1:c.*495A>C	ENSP00000501616.1:n.*495A>C
ENST00000675165.1:c.827A>C	ENSP00000502612.1:p.Glu276Ala
ENST00000675220.1:c.503A>C	ENSP00000502588.1:p.Glu168Ala
ENST00000675265.1:c.*580A>C	ENSP00000501848.1:n.*580A>C
ENST00000675336.1:c.*316A>C	ENSP00000502120.1:n.*316A>C
ENST00000675376.1:c.503A>C	ENSP00000502838.1:p.Glu168Ala
ENST00000675463.1:c.908A>C	ENSP00000502327.1:p.Glu303Ala
ENST00000675472.1:c.*316A>C	ENSP00000501946.1:n.*316A>C
ENST00000675474.1:n.415A>C
ENST00000675560.1:c.*366+1067A>C	ENSP00000502118.1:n.*366+1067A>C
ENST00000675625.1:c.*502A>C	ENSP00000501626.1:n.*502A>C
ENST00000675633.1:c.*237A>C	ENSP00000501785.1:n.*237A>C
ENST00000675661.1:c.*590A>C	ENSP00000501958.1:n.*590A>C
ENST00000675706.1:n.2788A>C
ENST00000675821.1:c.503A>C	ENSP00000502198.1:p.Glu168Ala
ENST00000675832.1:c.*502A>C	ENSP00000502041.1:n.*502A>C
ENST00000675928.1:c.656A>C	ENSP00000501568.1:p.Glu219Ala
ENST00000675944.1:c.626A>C	ENSP00000502673.1:p.Glu209Ala
ENST00000675999.1:c.694+1067A>C	ENSP00000502572.1:n.694+1067A>C
ENST00000676049.1:c.*732A>C	ENSP00000501912.1:n.*732A>C
ENST00000676112.1:c.896A>C	ENSP00000502295.1:p.Glu299Ala
ENST00000676143.1:c.503A>C	ENSP00000502828.1:p.Glu168Ala
ENST00000676207.1:c.694+1067A>C	ENSP00000502638.1:n.694+1067A>C
ENST00000676377.1:c.503A>C	ENSP00000502756.1:p.Glu168Ala
ENST00000676415.1:c.*136A>C	ENSP00000502665.1:n.*136A>C
ENST00000676443.1:c.782A>C	ENSP00000501769.1:p.Glu261Ala
ENST00000220822.11:c.830A>C	ENSP00000220822.7:p.Glu277Ala
ENST00000434412.2:c.626A>C	ENSP00000417006.2:p.Glu209Ala
ENST00000520797.5:n.595A>C
ENST00000521096.5:n.636A>C
ENST00000522568.1:c.*502A>C	ENSP00000430136.1:n.*502A>C
ENST00000524195.1:n.103+1067A>C
NM_001040875.2:c.626A>C	NP_001035808.1:p.Glu209Ala
NM_018972.2:c.830A>C	NP_061845.2:p.Glu277Ala
NR_046346.1:n.764A>C
XM_011517551.1:c.1124A>C	XP_011515853.1:p.Glu375Ala
XM_011517552.1:c.503A>C	XP_011515854.1:p.Glu168Ala
NM_001040875.3:c.626A>C	NP_001035808.1:p.Glu209Ala
NM_001362929.1:c.503A>C	NP_001349858.1:p.Glu168Ala
NM_001362930.1:c.656A>C	NP_001349859.1:p.Glu219Ala
NM_001362931.1:c.694+1067A>C	NP_001349860.1:n.694+1067A>C
NM_001362932.1:c.503A>C	NP_001349861.1:p.Glu168Ala
NM_018972.3:c.830A>C	NP_061845.2:p.Glu277Ala
NM_001362931.2:c.694+1067A>C	NP_001349860.1:n.694+1067A>C
NM_018972.4:c.830A>C MANE Select	NP_061845.2:p.Glu277Ala
NM_001040875.4:c.626A>C	NP_001035808.1:p.Glu209Ala
NM_001362929.2:c.503A>C	NP_001349858.1:p.Glu168Ala
NM_001362930.2:c.656A>C	NP_001349859.1:p.Glu219Ala
NM_001362932.2:c.503A>C	NP_001349861.1:p.Glu168Ala