Canonical Allele Identifier: CA376556220
Gene: RET HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43119591A>C , CM000672.2:g.43119591A>C GRCh38
NC_000010.10:g.43615039A>C , CM000672.1:g.43615039A>C GRCh37
NC_000010.9:g.42935045A>C NCBI36
NG_007489.1:g.47523A>C , LRG_518:g.47523A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000615310.5:c.2057A>C ENSP00000480088.2:p.Glu686Ala
ENST00000683007.1:n.2027A>C
ENST00000683872.1:n.2018A>C
ENST00000340058.6:c.2453A>C ENSP00000344798.4:p.Glu818Ala
ENST00000355710.8:c.2453A>C MANE Select ENSP00000347942.3:p.Glu818Ala
ENST00000671844.1:c.*1047A>C ENSP00000500541.1:n.*1047A>C
ENST00000672389.1:c.*1047A>C ENSP00000500252.1:n.*1047A>C
ENST00000340058.5:c.2453A>C ENSP00000344798.4:p.Glu818Ala
ENST00000355710.7:c.2453A>C ENSP00000347942.3:p.Glu818Ala
ENST00000615310.4:c.1290-111A>C ENSP00000480088.1:n.1290-111A>C
NM_020630.4:c.2453A>C , LRG_518t2:c.2453A>C NP_065681.1:p.Glu818Ala
NM_020975.4:c.2453A>C , LRG_518t1:c.2453A>C NP_066124.1:p.Glu818Ala
XM_011540027.1:c.2453A>C XP_011538329.1:p.Glu818Ala
NM_001355216.1:c.1691A>C NP_001342145.1:p.Glu564Ala
NM_020630.5:c.2453A>C NP_065681.1:p.Glu818Ala
NM_020975.5:c.2453A>C NP_066124.1:p.Glu818Ala
NM_020975.6:c.2453A>C MANE Select NP_066124.1:p.Glu818Ala
NM_020630.6:c.2453A>C NP_065681.1:p.Glu818Ala