Canonical Allele Identifier: CA034343
Community Standard Title: NM_020975.6(RET):c.1538C>G (p.Ala513Gly)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43112114C>G , CM000672.2:g.43112114C>G GRCh38
NC_000010.10:g.43607562C>G , CM000672.1:g.43607562C>G GRCh37
NC_000010.9:g.42927568C>G NCBI36
NG_007489.1:g.40046C>G , LRG_518:g.40046C>G

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1538C>G MANE Select NP_066124.1:p.Ala513Gly
ENST00000355710.8:c.1538C>G MANE Select ENSP00000347942.3:p.Ala513Gly
NM_001355216.1:c.776C>G NP_001342145.1:p.Ala259Gly
NM_020630.4:c.1538C>G , LRG_518t2:c.1538C>G NP_065681.1:p.Ala513Gly
NM_020630.5:c.1538C>G NP_065681.1:p.Ala513Gly
NM_020630.6:c.1538C>G NP_065681.1:p.Ala513Gly
NM_020975.4:c.1538C>G , LRG_518t1:c.1538C>G NP_066124.1:p.Ala513Gly
NM_020975.5:c.1538C>G NP_066124.1:p.Ala513Gly
ENST00000340058.5:c.1538C>G ENSP00000344798.4:p.Ala513Gly
ENST00000340058.6:c.1538C>G ENSP00000344798.4:p.Ala513Gly
ENST00000355710.7:c.1538C>G ENSP00000347942.3:p.Ala513Gly
ENST00000498820.5:c.89C>G ENSP00000419080.1:p.Ala30Gly
ENST00000615310.4:c.1289+882C>G ENSP00000480088.1:n.1289+882C>G
ENST00000615310.5:c.1142C>G ENSP00000480088.2:p.Ala381Gly
ENST00000671844.1:c.*132C>G ENSP00000500541.1:n.*132C>G
ENST00000672389.1:c.*132C>G ENSP00000500252.1:n.*132C>G
ENST00000683007.1:n.1112C>G
ENST00000683872.1:n.299C>G
XM_011540027.1:c.1538C>G XP_011538329.1:p.Ala513Gly