Canonical Allele Identifier: CA376553049
Gene: RET HGNC NCBI

Linked Data

ClinVar Variation Id: 1783659
ClinVar RCV Id: RCV002423531
dbSNP Id: rs1274484329

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43114573A>T , CM000672.2:g.43114573A>T GRCh38
NC_000010.10:g.43610021A>T , CM000672.1:g.43610021A>T GRCh37
NC_000010.9:g.42930027A>T NCBI36
NG_007489.1:g.42505A>T , LRG_518:g.42505A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000615310.5:c.1577A>T ENSP00000480088.2:p.His526Leu
ENST00000683007.1:n.1547A>T
ENST00000683872.1:n.1538A>T
ENST00000340058.6:c.1973A>T ENSP00000344798.4:p.His658Leu
ENST00000355710.8:c.1973A>T MANE Select ENSP00000347942.3:p.His658Leu
ENST00000671844.1:c.*567A>T ENSP00000500541.1:n.*567A>T
ENST00000672389.1:c.*567A>T ENSP00000500252.1:n.*567A>T
ENST00000340058.5:c.1973A>T ENSP00000344798.4:p.His658Leu
ENST00000355710.7:c.1973A>T ENSP00000347942.3:p.His658Leu
ENST00000498820.5:c.524A>T ENSP00000419080.1:p.His175Leu
ENST00000615310.4:c.1289+3341A>T ENSP00000480088.1:n.1289+3341A>T
NM_020630.4:c.1973A>T , LRG_518t2:c.1973A>T NP_065681.1:p.His658Leu
NM_020975.4:c.1973A>T , LRG_518t1:c.1973A>T NP_066124.1:p.His658Leu
XM_011540027.1:c.1973A>T XP_011538329.1:p.His658Leu
NM_001355216.1:c.1211A>T NP_001342145.1:p.His404Leu
NM_020630.5:c.1973A>T NP_065681.1:p.His658Leu
NM_020975.5:c.1973A>T NP_066124.1:p.His658Leu
NM_020975.6:c.1973A>T MANE Select NP_066124.1:p.His658Leu
NM_020630.6:c.1973A>T NP_065681.1:p.His658Leu