Canonical Allele Identifier: CA4785331

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 363748
• ClinVar RCV Id: RCV000277735 ; RCV000314066
• dbSNP Id: rs145245478
• ExAC: 8:75278241 A / G
• gnomAD v2: 8-75278241-A-G
• gnomAD v3: 8-74366006-A-G
• gnomAD v4: 8-74366006-A-G
• MyVariant Identifiers: chr8:g.75278241A>G (hg19) ; chr8:g.74366006A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74366006A>G , CM000670.2:g.74366006A>G	GRCh38
NC_000008.10:g.75278241A>G , CM000670.1:g.75278241A>G	GRCh37
NC_000008.9:g.75440796A>G	NCBI36
NG_008787.2:g.49877A>G
NG_008787.3:g.49877A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.*1639A>G MANE Select	ENSP00000220822.7:n.*1639A>G
ENST00000521096.6:n.2572A>G
ENST00000522568.2:c.*545+1843A>G	ENSP00000430136.1:n.*545+1843A>G
ENST00000523640.2:c.165+14685A>G	ENSP00000502017.1:n.165+14685A>G
ENST00000524195.2:c.280+2953A>G	ENSP00000502308.1:n.280+2953A>G
ENST00000674612.1:c.*1639A>G	ENSP00000501864.1:n.*1639A>G
ENST00000674710.1:c.694+2953A>G	ENSP00000502762.1:n.694+2953A>G
ENST00000674754.1:c.*4279A>G	ENSP00000502063.1:n.*4279A>G
ENST00000674756.1:c.*366+2953A>G	ENSP00000501860.1:n.*366+2953A>G
ENST00000674806.1:c.*1639A>G	ENSP00000502637.1:n.*1639A>G
ENST00000674865.1:c.*1639A>G	ENSP00000502437.1:n.*1639A>G
ENST00000674926.1:c.*3348A>G	ENSP00000501799.1:n.*3348A>G
ENST00000674934.1:c.*2404A>G	ENSP00000502187.1:n.*2404A>G
ENST00000674944.1:c.*3319A>G	ENSP00000501858.1:n.*3319A>G
ENST00000674946.1:c.694+2953A>G	ENSP00000501569.1:n.694+2953A>G
ENST00000674973.1:c.*1639A>G	ENSP00000502447.1:n.*1639A>G
ENST00000675007.1:c.*2454A>G	ENSP00000502119.1:n.*2454A>G
ENST00000675165.1:c.*1639A>G	ENSP00000502612.1:n.*1639A>G
ENST00000675220.1:c.*1639A>G	ENSP00000502588.1:n.*1639A>G
ENST00000675265.1:c.*2466A>G	ENSP00000501848.1:n.*2466A>G
ENST00000675336.1:c.*2202A>G	ENSP00000502120.1:n.*2202A>G
ENST00000675376.1:c.*1639A>G	ENSP00000502838.1:n.*1639A>G
ENST00000675463.1:c.*1639A>G	ENSP00000502327.1:n.*1639A>G
ENST00000675472.1:c.*2202A>G	ENSP00000501946.1:n.*2202A>G
ENST00000675560.1:c.*366+2953A>G	ENSP00000502118.1:n.*366+2953A>G
ENST00000675625.1:c.*2388A>G	ENSP00000501626.1:n.*2388A>G
ENST00000675633.1:c.*2123A>G	ENSP00000501785.1:n.*2123A>G
ENST00000675661.1:c.*2476A>G	ENSP00000501958.1:n.*2476A>G
ENST00000675706.1:n.4674A>G
ENST00000675821.1:c.*1639A>G	ENSP00000502198.1:n.*1639A>G
ENST00000675832.1:c.*2388A>G	ENSP00000502041.1:n.*2388A>G
ENST00000675944.1:c.*1639A>G	ENSP00000502673.1:n.*1639A>G
ENST00000675999.1:c.694+2953A>G	ENSP00000502572.1:n.694+2953A>G
ENST00000676049.1:c.*2618A>G	ENSP00000501912.1:n.*2618A>G
ENST00000676112.1:c.*1639A>G	ENSP00000502295.1:n.*1639A>G
ENST00000676143.1:c.*1639A>G	ENSP00000502828.1:n.*1639A>G
ENST00000676207.1:c.694+2953A>G	ENSP00000502638.1:n.694+2953A>G
ENST00000676377.1:c.*1639A>G	ENSP00000502756.1:n.*1639A>G
ENST00000676415.1:c.*2022A>G	ENSP00000502665.1:n.*2022A>G
ENST00000676443.1:c.*1639A>G	ENSP00000501769.1:n.*1639A>G
ENST00000220822.11:c.*1639A>G	ENSP00000220822.7:n.*1639A>G
ENST00000524195.1:n.103+2953A>G
NM_001040875.2:c.*1639A>G	NP_001035808.1:n.*1639A>G
NM_018972.2:c.*1639A>G	NP_061845.2:n.*1639A>G
NR_046346.1:n.2650A>G
XM_011517551.1:c.*1639A>G	XP_011515853.1:n.*1639A>G
XM_011517552.1:c.*1639A>G	XP_011515854.1:n.*1639A>G
NM_001040875.3:c.*1639A>G	NP_001035808.1:n.*1639A>G
NM_001362929.1:c.*1639A>G	NP_001349858.1:n.*1639A>G
NM_001362930.1:c.*1639A>G	NP_001349859.1:n.*1639A>G
NM_001362931.1:c.694+2953A>G	NP_001349860.1:n.694+2953A>G
NM_001362932.1:c.*1639A>G	NP_001349861.1:n.*1639A>G
NM_018972.3:c.*1639A>G	NP_061845.2:n.*1639A>G
NM_001362931.2:c.694+2953A>G	NP_001349860.1:n.694+2953A>G
NM_018972.4:c.*1639A>G MANE Select	NP_061845.2:n.*1639A>G
NM_001040875.4:c.*1639A>G	NP_001035808.1:n.*1639A>G
NM_001362929.2:c.*1639A>G	NP_001349858.1:n.*1639A>G
NM_001362930.2:c.*1639A>G	NP_001349859.1:n.*1639A>G
NM_001362932.2:c.*1639A>G	NP_001349861.1:n.*1639A>G