Canonical Allele Identifier: CA4785211

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 1105238
• ClinVar RCV Id: RCV001429516
• dbSNP Id: rs752758036
• ExAC: 8:75276410 T / C
• gnomAD v2: 8-75276410-T-C
• gnomAD v3: 8-74364175-T-C
• gnomAD v4: 8-74364175-T-C
• MyVariant Identifiers: chr8:g.75276410T>C (hg19) ; chr8:g.74364175T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364175T>C , CM000670.2:g.74364175T>C	GRCh38
NC_000008.10:g.75276410T>C , CM000670.1:g.75276410T>C	GRCh37
NC_000008.9:g.75438965T>C	NCBI36
NG_008787.2:g.48046T>C
NG_008787.3:g.48046T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.885T>C MANE Select	ENSP00000220822.7:p.His295=
ENST00000434412.3:c.753T>C	ENSP00000417006.3:p.His251=
ENST00000520797.6:n.996T>C
ENST00000521096.6:n.741T>C
ENST00000522568.2:c.*545+12T>C	ENSP00000430136.1:n.*545+12T>C
ENST00000523640.2:c.165+12854T>C	ENSP00000502017.1:n.165+12854T>C
ENST00000524195.2:c.280+1122T>C	ENSP00000502308.1:n.280+1122T>C
ENST00000674612.1:c.558T>C	ENSP00000501864.1:p.His186=
ENST00000674710.1:c.694+1122T>C	ENSP00000502762.1:n.694+1122T>C
ENST00000674754.1:c.*2448T>C	ENSP00000502063.1:n.*2448T>C
ENST00000674756.1:c.*366+1122T>C	ENSP00000501860.1:n.*366+1122T>C
ENST00000674806.1:c.558T>C	ENSP00000502637.1:p.His186=
ENST00000674865.1:c.681T>C	ENSP00000502437.1:p.His227=
ENST00000674926.1:c.*1517T>C	ENSP00000501799.1:n.*1517T>C
ENST00000674934.1:c.*573T>C	ENSP00000502187.1:n.*573T>C
ENST00000674944.1:c.*1488T>C	ENSP00000501858.1:n.*1488T>C
ENST00000674946.1:c.694+1122T>C	ENSP00000501569.1:n.694+1122T>C
ENST00000674973.1:c.579T>C	ENSP00000502447.1:p.His193=
ENST00000675007.1:c.*623T>C	ENSP00000502119.1:n.*623T>C
ENST00000675060.1:c.*550T>C	ENSP00000501616.1:n.*550T>C
ENST00000675165.1:c.882T>C	ENSP00000502612.1:p.His294=
ENST00000675220.1:c.558T>C	ENSP00000502588.1:p.His186=
ENST00000675265.1:c.*635T>C	ENSP00000501848.1:n.*635T>C
ENST00000675336.1:c.*371T>C	ENSP00000502120.1:n.*371T>C
ENST00000675376.1:c.558T>C	ENSP00000502838.1:p.His186=
ENST00000675463.1:c.963T>C	ENSP00000502327.1:p.His321=
ENST00000675472.1:c.*371T>C	ENSP00000501946.1:n.*371T>C
ENST00000675474.1:n.470T>C
ENST00000675560.1:c.*366+1122T>C	ENSP00000502118.1:n.*366+1122T>C
ENST00000675625.1:c.*557T>C	ENSP00000501626.1:n.*557T>C
ENST00000675633.1:c.*292T>C	ENSP00000501785.1:n.*292T>C
ENST00000675661.1:c.*645T>C	ENSP00000501958.1:n.*645T>C
ENST00000675706.1:n.2843T>C
ENST00000675821.1:c.558T>C	ENSP00000502198.1:p.His186=
ENST00000675832.1:c.*557T>C	ENSP00000502041.1:n.*557T>C
ENST00000675928.1:c.711T>C	ENSP00000501568.1:p.His237=
ENST00000675944.1:c.681T>C	ENSP00000502673.1:p.His227=
ENST00000675999.1:c.694+1122T>C	ENSP00000502572.1:n.694+1122T>C
ENST00000676049.1:c.*787T>C	ENSP00000501912.1:n.*787T>C
ENST00000676112.1:c.951T>C	ENSP00000502295.1:p.His317=
ENST00000676143.1:c.558T>C	ENSP00000502828.1:p.His186=
ENST00000676207.1:c.694+1122T>C	ENSP00000502638.1:n.694+1122T>C
ENST00000676377.1:c.558T>C	ENSP00000502756.1:p.His186=
ENST00000676415.1:c.*191T>C	ENSP00000502665.1:n.*191T>C
ENST00000676443.1:c.837T>C	ENSP00000501769.1:p.His279=
ENST00000220822.11:c.885T>C	ENSP00000220822.7:p.His295=
ENST00000434412.2:c.681T>C	ENSP00000417006.2:p.His227=
ENST00000520797.5:n.650T>C
ENST00000521096.5:n.691T>C
ENST00000522568.1:c.*557T>C	ENSP00000430136.1:n.*557T>C
ENST00000524195.1:n.103+1122T>C
NM_001040875.2:c.681T>C	NP_001035808.1:p.His227=
NM_018972.2:c.885T>C	NP_061845.2:p.His295=
NR_046346.1:n.819T>C
XM_011517551.1:c.1179T>C	XP_011515853.1:p.His393=
XM_011517552.1:c.558T>C	XP_011515854.1:p.His186=
NM_001040875.3:c.681T>C	NP_001035808.1:p.His227=
NM_001362929.1:c.558T>C	NP_001349858.1:p.His186=
NM_001362930.1:c.711T>C	NP_001349859.1:p.His237=
NM_001362931.1:c.694+1122T>C	NP_001349860.1:n.694+1122T>C
NM_001362932.1:c.558T>C	NP_001349861.1:p.His186=
NM_018972.3:c.885T>C	NP_061845.2:p.His295=
NM_001362931.2:c.694+1122T>C	NP_001349860.1:n.694+1122T>C
NM_018972.4:c.885T>C MANE Select	NP_061845.2:p.His295=
NM_001040875.4:c.681T>C	NP_001035808.1:p.His227=
NM_001362929.2:c.558T>C	NP_001349858.1:p.His186=
NM_001362930.2:c.711T>C	NP_001349859.1:p.His237=
NM_001362932.2:c.558T>C	NP_001349861.1:p.His186=