Canonical Allele Identifier: CA179737476
Gene: GDAP1 HGNC NCBI
COSMIC:
COSN20431604 (not active)
MyVariant.info:
GRCh38 chr8:g.74382740T>G
GRCh37 chr8:g.75294975T>G
gnomAD v2:
8:75294975 T / G
gnomAD v3:
8:74382740 T / G
gnomAD v4:
chr8-74382740-T-G
Joint Max Group AF 0.43941737 (SAS)
Genomes Max Group AF 0.43941737 (SAS)
dbSNP:
4471028
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.74382740T>G , CM000670.2:g.74382740T>G GRCh38
NC_000008.10:g.75294975T>G , CM000670.1:g.75294975T>G GRCh37
NC_000008.9:g.75457530T>G NCBI36
NG_008787.2:g.66611T>G
NG_008787.3:g.66611T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000522568.2:c.*545+18577T>G ENSP00000430136.1:n.*545+18577T>G
ENST00000523640.2:c.165+31419T>G ENSP00000502017.1:n.165+31419T>G
ENST00000524195.2:c.280+19687T>G ENSP00000502308.1:n.280+19687T>G
ENST00000674710.1:c.694+19687T>G ENSP00000502762.1:n.694+19687T>G
ENST00000674756.1:c.*366+19687T>G ENSP00000501860.1:n.*366+19687T>G
ENST00000674946.1:c.694+19687T>G ENSP00000501569.1:n.694+19687T>G
ENST00000675560.1:c.*366+19687T>G ENSP00000502118.1:n.*366+19687T>G
ENST00000675999.1:c.694+19687T>G ENSP00000502572.1:n.694+19687T>G
ENST00000676207.1:c.694+19687T>G ENSP00000502638.1:n.694+19687T>G
ENST00000524195.1:n.103+19687T>G
NM_001362931.1:c.694+19687T>G NP_001349860.1:n.694+19687T>G
NM_001362931.2:c.694+19687T>G NP_001349860.1:n.694+19687T>G
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