Canonical Allele Identifier: CA008459
Gene: RET HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.43114542G>A
GRCh37 chr10:g.43609990G>A
Revel Score:
ENST00000355710 (MANE Select) 0.527
ENST00000498820 0.527
ENST00000340058 0.527
gnomAD v2:
10:43609990 G / A
gnomAD v3:
10:43114542 G / A
gnomAD v4:
chr10-43114542-G-A
Joint Max Group AF 0.00065415 (MID)
Genomes Max Group AF 0.00002848 (NFE)
Exomes Max Group AF 0.00068985 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43114542G>A , CM000672.2:g.43114542G>A GRCh38
NC_000010.10:g.43609990G>A , CM000672.1:g.43609990G>A GRCh37
NC_000010.9:g.42929996G>A NCBI36
NG_007489.1:g.42474G>A , LRG_518:g.42474G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000615310.5:c.1546G>A ENSP00000480088.2:p.Val516Ile
ENST00000683007.1:n.1516G>A
ENST00000683872.1:n.1507G>A
ENST00000340058.6:c.1942G>A ENSP00000344798.4:p.Val648Ile
ENST00000355710.8:c.1942G>A MANE Select ENSP00000347942.3:p.Val648Ile
ENST00000671844.1:c.*536G>A ENSP00000500541.1:n.*536G>A
ENST00000672389.1:c.*536G>A ENSP00000500252.1:n.*536G>A
ENST00000340058.5:c.1942G>A ENSP00000344798.4:p.Val648Ile
ENST00000355710.7:c.1942G>A ENSP00000347942.3:p.Val648Ile
ENST00000498820.5:c.493G>A ENSP00000419080.1:p.Val165Ile
ENST00000615310.4:c.1289+3310G>A ENSP00000480088.1:n.1289+3310G>A
NM_020630.4:c.1942G>A , LRG_518t2:c.1942G>A NP_065681.1:p.Val648Ile
NM_020975.4:c.1942G>A , LRG_518t1:c.1942G>A NP_066124.1:p.Val648Ile
XM_011540027.1:c.1942G>A XP_011538329.1:p.Val648Ile
NM_001355216.1:c.1180G>A NP_001342145.1:p.Val394Ile
NM_020630.5:c.1942G>A NP_065681.1:p.Val648Ile
NM_020975.5:c.1942G>A NP_066124.1:p.Val648Ile
NM_020975.6:c.1942G>A MANE Select NP_066124.1:p.Val648Ile
NM_020630.6:c.1942G>A NP_065681.1:p.Val648Ile
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