Canonical Allele Identifier: CA206268023
Gene: RET HGNC NCBI
COSMIC:
COSN15659979 (not active)
MyVariant.info:
GRCh38 chr10:g.43127485T>C
GRCh37 chr10:g.43622933T>C
gnomAD v2:
10:43622933 T / C
gnomAD v3:
10:43127485 T / C
gnomAD v4:
chr10-43127485-T-C
Joint Max Group AF 0.94195825 (AFR)
Genomes Max Group AF 0.93796871 (AFR)
Exomes Max Group AF 0.94292901 (AFR)
dbSNP:
2565200
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43127485T>C , CM000672.2:g.43127485T>C GRCh38
NC_000010.10:g.43622933T>C , CM000672.1:g.43622933T>C GRCh37
NC_000010.9:g.42942939T>C NCBI36
NG_007489.1:g.55417T>C , LRG_518:g.55417T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000615310.5:c.*731T>C ENSP00000480088.2:n.*731T>C
ENST00000683007.1:n.3524T>C
ENST00000340058.6:c.*731T>C ENSP00000344798.4:n.*731T>C
ENST00000355710.8:c.3188-627T>C MANE Select ENSP00000347942.3:n.3188-627T>C
ENST00000340058.5:c.*731T>C ENSP00000344798.4:n.*731T>C
ENST00000355710.7:c.3188-627T>C ENSP00000347942.3:n.3188-627T>C
ENST00000615310.4:c.*537-627T>C ENSP00000480088.1:n.*537-627T>C
NM_020630.4:c.*731T>C , LRG_518t2:c.*731T>C NP_065681.1:n.*731T>C
NM_020975.4:c.3188-627T>C , LRG_518t1:c.3188-627T>C NP_066124.1:n.3188-627T>C
XM_011540027.1:c.3188-627T>C XP_011538329.1:n.3188-627T>C
NM_001355216.1:c.*731T>C NP_001342145.1:n.*731T>C
NM_020630.5:c.*731T>C NP_065681.1:n.*731T>C
NM_020975.5:c.3188-627T>C NP_066124.1:n.3188-627T>C
NM_020975.6:c.3188-627T>C MANE Select NP_066124.1:n.3188-627T>C
NM_020630.6:c.*731T>C NP_065681.1:n.*731T>C
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