Canonical Allele Identifier: CA658832928
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.[43114492A>T;43114595C>G] , CM000672.2:g.[43114492A>T;43114595C>G] GRCh38
NC_000010.10:g.[43609940A>T;43610043C>G] , CM000672.1:g.[43609940A>T;43610043C>G] GRCh37
NC_000010.9:g.[42929946A>T;42930049C>G] NCBI36
NG_007489.1:g.[42424A>T;42527C>G] , LRG_518:g.[42424A>T;42527C>G]

Transcript Alleles

HGVS Amino-acid change
ENST00000615310.5:c.[1496A>T;1599C>G] ENSP00000480088.2:p.[Asp499Val;His533Gln]
ENST00000683007.1:n.[1466A>T;1569C>G]
ENST00000683872.1:n.[1457A>T;1560C>G]
ENST00000340058.6:c.[1892A>T;1995C>G] ENSP00000344798.4:p.[Asp631Val;His665Gln]
ENST00000355710.8:c.[1892A>T;1995C>G] MANE Select ENSP00000347942.3:p.[Asp631Val;His665Gln]
ENST00000671844.1:c.[*486A>T;*589C>G] ENSP00000500541.1:n.[*486A>T;*589C>G]
ENST00000672389.1:c.[*486A>T;*589C>G] ENSP00000500252.1:n.[*486A>T;*589C>G]
ENST00000340058.5:c.[1892A>T;1995C>G] ENSP00000344798.4:p.[Asp631Val;His665Gln]
ENST00000355710.7:c.[1892A>T;1995C>G] ENSP00000347942.3:p.[Asp631Val;His665Gln]
ENST00000615310.4:c.[1289+3260A>T;1289+3363C>G] ENSP00000480088.1:n.[1289+3260A>T;1289+3363C>G]
NM_020630.4:c.[1892A>T;1995C>G] , LRG_518t2:c.[1892A>T;1995C>G] NP_065681.1:p.[Asp631Val;His665Gln]
NM_020975.4:c.[1892A>T;1995C>G] , LRG_518t1:c.[1892A>T;1995C>G] NP_066124.1:p.[Asp631Val;His665Gln]
XM_011540027.1:c.[1892A>T;1995C>G] XP_011538329.1:p.[Asp631Val;His665Gln]
NM_001355216.1:c.[1130A>T;1233C>G] NP_001342145.1:p.[Asp377Val;His411Gln]
NM_020630.5:c.[1892A>T;1995C>G] NP_065681.1:p.[Asp631Val;His665Gln]
NM_020975.5:c.[1892A>T;1995C>G] NP_066124.1:p.[Asp631Val;His665Gln]
NM_020975.6:c.[1892A>T;1995C>G] MANE Select NP_066124.1:p.[Asp631Val;His665Gln]
NM_020630.6:c.[1892A>T;1995C>G] NP_065681.1:p.[Asp631Val;His665Gln]