Canonical Allele Identifier: CA1794129650
Gene: GDAP1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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