Canonical Allele Identifier: CA4785197

Gene: GDAP1

Linked Data

• dbSNP Id: rs749026162
• ExAC: 8:75276287 A / G
• gnomAD v2: 8-75276287-A-G
• gnomAD v4: 8-74364052-A-G
• MyVariant Identifiers: chr8:g.75276287A>G (hg19) ; chr8:g.74364052A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364052A>G , CM000670.2:g.74364052A>G	GRCh38
NC_000008.10:g.75276287A>G , CM000670.1:g.75276287A>G	GRCh37
NC_000008.9:g.75438842A>G	NCBI36
NG_008787.2:g.47923A>G
NG_008787.3:g.47923A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.762A>G MANE Select	ENSP00000220822.7:p.Thr254=
ENST00000434412.3:c.630A>G	ENSP00000417006.3:p.Thr210=
ENST00000520797.6:n.873A>G
ENST00000521096.6:n.618A>G
ENST00000522568.2:c.*434A>G	ENSP00000430136.1:n.*434A>G
ENST00000523640.2:c.165+12731A>G	ENSP00000502017.1:n.165+12731A>G
ENST00000524195.2:c.280+999A>G	ENSP00000502308.1:n.280+999A>G
ENST00000674612.1:c.435A>G	ENSP00000501864.1:p.Thr145=
ENST00000674710.1:c.694+999A>G	ENSP00000502762.1:n.694+999A>G
ENST00000674754.1:c.*2325A>G	ENSP00000502063.1:n.*2325A>G
ENST00000674756.1:c.*366+999A>G	ENSP00000501860.1:n.*366+999A>G
ENST00000674806.1:c.435A>G	ENSP00000502637.1:p.Thr145=
ENST00000674865.1:c.558A>G	ENSP00000502437.1:p.Thr186=
ENST00000674926.1:c.*1394A>G	ENSP00000501799.1:n.*1394A>G
ENST00000674934.1:c.*450A>G	ENSP00000502187.1:n.*450A>G
ENST00000674944.1:c.*1365A>G	ENSP00000501858.1:n.*1365A>G
ENST00000674946.1:c.694+999A>G	ENSP00000501569.1:n.694+999A>G
ENST00000674973.1:c.456A>G	ENSP00000502447.1:p.Thr152=
ENST00000675007.1:c.*500A>G	ENSP00000502119.1:n.*500A>G
ENST00000675060.1:c.*427A>G	ENSP00000501616.1:n.*427A>G
ENST00000675165.1:c.759A>G	ENSP00000502612.1:p.Thr253=
ENST00000675220.1:c.435A>G	ENSP00000502588.1:p.Thr145=
ENST00000675265.1:c.*512A>G	ENSP00000501848.1:n.*512A>G
ENST00000675336.1:c.*248A>G	ENSP00000502120.1:n.*248A>G
ENST00000675376.1:c.435A>G	ENSP00000502838.1:p.Thr145=
ENST00000675463.1:c.840A>G	ENSP00000502327.1:p.Thr280=
ENST00000675472.1:c.*248A>G	ENSP00000501946.1:n.*248A>G
ENST00000675474.1:n.347A>G
ENST00000675560.1:c.*366+999A>G	ENSP00000502118.1:n.*366+999A>G
ENST00000675625.1:c.*434A>G	ENSP00000501626.1:n.*434A>G
ENST00000675633.1:c.*169A>G	ENSP00000501785.1:n.*169A>G
ENST00000675661.1:c.*522A>G	ENSP00000501958.1:n.*522A>G
ENST00000675706.1:n.2720A>G
ENST00000675821.1:c.435A>G	ENSP00000502198.1:p.Thr145=
ENST00000675832.1:c.*434A>G	ENSP00000502041.1:n.*434A>G
ENST00000675928.1:c.588A>G	ENSP00000501568.1:p.Thr196=
ENST00000675944.1:c.558A>G	ENSP00000502673.1:p.Thr186=
ENST00000675999.1:c.694+999A>G	ENSP00000502572.1:n.694+999A>G
ENST00000676049.1:c.*664A>G	ENSP00000501912.1:n.*664A>G
ENST00000676112.1:c.828A>G	ENSP00000502295.1:p.Thr276=
ENST00000676143.1:c.435A>G	ENSP00000502828.1:p.Thr145=
ENST00000676207.1:c.694+999A>G	ENSP00000502638.1:n.694+999A>G
ENST00000676377.1:c.435A>G	ENSP00000502756.1:p.Thr145=
ENST00000676415.1:c.*68A>G	ENSP00000502665.1:n.*68A>G
ENST00000676443.1:c.714A>G	ENSP00000501769.1:p.Thr238=
ENST00000220822.11:c.762A>G	ENSP00000220822.7:p.Thr254=
ENST00000434412.2:c.558A>G	ENSP00000417006.2:p.Thr186=
ENST00000520797.5:n.527A>G
ENST00000521096.5:n.568A>G
ENST00000522568.1:c.*434A>G	ENSP00000430136.1:n.*434A>G
ENST00000524195.1:n.103+999A>G
NM_001040875.2:c.558A>G	NP_001035808.1:p.Thr186=
NM_018972.2:c.762A>G	NP_061845.2:p.Thr254=
NR_046346.1:n.696A>G
XM_011517551.1:c.1056A>G	XP_011515853.1:p.Thr352=
XM_011517552.1:c.435A>G	XP_011515854.1:p.Thr145=
NM_001040875.3:c.558A>G	NP_001035808.1:p.Thr186=
NM_001362929.1:c.435A>G	NP_001349858.1:p.Thr145=
NM_001362930.1:c.588A>G	NP_001349859.1:p.Thr196=
NM_001362931.1:c.694+999A>G	NP_001349860.1:n.694+999A>G
NM_001362932.1:c.435A>G	NP_001349861.1:p.Thr145=
NM_018972.3:c.762A>G	NP_061845.2:p.Thr254=
NM_001362931.2:c.694+999A>G	NP_001349860.1:n.694+999A>G
NM_018972.4:c.762A>G MANE Select	NP_061845.2:p.Thr254=
NM_001040875.4:c.558A>G	NP_001035808.1:p.Thr186=
NM_001362929.2:c.435A>G	NP_001349858.1:p.Thr145=
NM_001362930.2:c.588A>G	NP_001349859.1:p.Thr196=
NM_001362932.2:c.435A>G	NP_001349861.1:p.Thr145=