Canonical Allele Identifier: CA4785202

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 467773
• ClinVar RCV Id: RCV000530141 ; RCV000789643 ; RCV002269286 ; RCV003447144
• dbSNP Id: rs775622226
• ExAC: 8:75276336 G / A
• gnomAD v2: 8-75276336-G-A
• gnomAD v3: 8-74364101-G-A
• gnomAD v4: 8-74364101-G-A
• MyVariant Identifiers: chr8:g.75276336G>A (hg19) ; chr8:g.74364101G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364101G>A , CM000670.2:g.74364101G>A	GRCh38
NC_000008.10:g.75276336G>A , CM000670.1:g.75276336G>A	GRCh37
NC_000008.9:g.75438891G>A	NCBI36
NG_008787.2:g.47972G>A
NG_008787.3:g.47972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.811G>A MANE Select	ENSP00000220822.7:p.Gly271Arg
ENST00000434412.3:c.679G>A	ENSP00000417006.3:p.Gly227Arg
ENST00000520797.6:n.922G>A
ENST00000521096.6:n.667G>A
ENST00000522568.2:c.*483G>A	ENSP00000430136.1:n.*483G>A
ENST00000523640.2:c.165+12780G>A	ENSP00000502017.1:n.165+12780G>A
ENST00000524195.2:c.280+1048G>A	ENSP00000502308.1:n.280+1048G>A
ENST00000674612.1:c.484G>A	ENSP00000501864.1:p.Gly162Arg
ENST00000674710.1:c.694+1048G>A	ENSP00000502762.1:n.694+1048G>A
ENST00000674754.1:c.*2374G>A	ENSP00000502063.1:n.*2374G>A
ENST00000674756.1:c.*366+1048G>A	ENSP00000501860.1:n.*366+1048G>A
ENST00000674806.1:c.484G>A	ENSP00000502637.1:p.Gly162Arg
ENST00000674865.1:c.607G>A	ENSP00000502437.1:p.Gly203Arg
ENST00000674926.1:c.*1443G>A	ENSP00000501799.1:n.*1443G>A
ENST00000674934.1:c.*499G>A	ENSP00000502187.1:n.*499G>A
ENST00000674944.1:c.*1414G>A	ENSP00000501858.1:n.*1414G>A
ENST00000674946.1:c.694+1048G>A	ENSP00000501569.1:n.694+1048G>A
ENST00000674973.1:c.505G>A	ENSP00000502447.1:p.Gly169Arg
ENST00000675007.1:c.*549G>A	ENSP00000502119.1:n.*549G>A
ENST00000675060.1:c.*476G>A	ENSP00000501616.1:n.*476G>A
ENST00000675165.1:c.808G>A	ENSP00000502612.1:p.Gly270Arg
ENST00000675220.1:c.484G>A	ENSP00000502588.1:p.Gly162Arg
ENST00000675265.1:c.*561G>A	ENSP00000501848.1:n.*561G>A
ENST00000675336.1:c.*297G>A	ENSP00000502120.1:n.*297G>A
ENST00000675376.1:c.484G>A	ENSP00000502838.1:p.Gly162Arg
ENST00000675463.1:c.889G>A	ENSP00000502327.1:p.Gly297Arg
ENST00000675472.1:c.*297G>A	ENSP00000501946.1:n.*297G>A
ENST00000675474.1:n.396G>A
ENST00000675560.1:c.*366+1048G>A	ENSP00000502118.1:n.*366+1048G>A
ENST00000675625.1:c.*483G>A	ENSP00000501626.1:n.*483G>A
ENST00000675633.1:c.*218G>A	ENSP00000501785.1:n.*218G>A
ENST00000675661.1:c.*571G>A	ENSP00000501958.1:n.*571G>A
ENST00000675706.1:n.2769G>A
ENST00000675821.1:c.484G>A	ENSP00000502198.1:p.Gly162Arg
ENST00000675832.1:c.*483G>A	ENSP00000502041.1:n.*483G>A
ENST00000675928.1:c.637G>A	ENSP00000501568.1:p.Gly213Arg
ENST00000675944.1:c.607G>A	ENSP00000502673.1:p.Gly203Arg
ENST00000675999.1:c.694+1048G>A	ENSP00000502572.1:n.694+1048G>A
ENST00000676049.1:c.*713G>A	ENSP00000501912.1:n.*713G>A
ENST00000676112.1:c.877G>A	ENSP00000502295.1:p.Gly293Arg
ENST00000676143.1:c.484G>A	ENSP00000502828.1:p.Gly162Arg
ENST00000676207.1:c.694+1048G>A	ENSP00000502638.1:n.694+1048G>A
ENST00000676377.1:c.484G>A	ENSP00000502756.1:p.Gly162Arg
ENST00000676415.1:c.*117G>A	ENSP00000502665.1:n.*117G>A
ENST00000676443.1:c.763G>A	ENSP00000501769.1:p.Gly255Arg
ENST00000220822.11:c.811G>A	ENSP00000220822.7:p.Gly271Arg
ENST00000434412.2:c.607G>A	ENSP00000417006.2:p.Gly203Arg
ENST00000520797.5:n.576G>A
ENST00000521096.5:n.617G>A
ENST00000522568.1:c.*483G>A	ENSP00000430136.1:n.*483G>A
ENST00000524195.1:n.103+1048G>A
NM_001040875.2:c.607G>A	NP_001035808.1:p.Gly203Arg
NM_018972.2:c.811G>A	NP_061845.2:p.Gly271Arg
NR_046346.1:n.745G>A
XM_011517551.1:c.1105G>A	XP_011515853.1:p.Gly369Arg
XM_011517552.1:c.484G>A	XP_011515854.1:p.Gly162Arg
NM_001040875.3:c.607G>A	NP_001035808.1:p.Gly203Arg
NM_001362929.1:c.484G>A	NP_001349858.1:p.Gly162Arg
NM_001362930.1:c.637G>A	NP_001349859.1:p.Gly213Arg
NM_001362931.1:c.694+1048G>A	NP_001349860.1:n.694+1048G>A
NM_001362932.1:c.484G>A	NP_001349861.1:p.Gly162Arg
NM_018972.3:c.811G>A	NP_061845.2:p.Gly271Arg
NM_001362931.2:c.694+1048G>A	NP_001349860.1:n.694+1048G>A
NM_018972.4:c.811G>A MANE Select	NP_061845.2:p.Gly271Arg
NM_001040875.4:c.607G>A	NP_001035808.1:p.Gly203Arg
NM_001362929.2:c.484G>A	NP_001349858.1:p.Gly162Arg
NM_001362930.2:c.637G>A	NP_001349859.1:p.Gly213Arg
NM_001362932.2:c.484G>A	NP_001349861.1:p.Gly162Arg