Canonical Allele Identifier: CA376549504
Community Standard Title: NM_020975.6(RET):c.1414G>A (p.Ala472Thr)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43111357G>A , CM000672.2:g.43111357G>A GRCh38
NC_000010.10:g.43606805G>A , CM000672.1:g.43606805G>A GRCh37
NC_000010.9:g.42926811G>A NCBI36
NG_007489.1:g.39289G>A , LRG_518:g.39289G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1414G>A MANE Select NP_066124.1:p.Ala472Thr
ENST00000355710.8:c.1414G>A MANE Select ENSP00000347942.3:p.Ala472Thr
NM_001355216.1:c.652G>A NP_001342145.1:p.Ala218Thr
NM_020630.4:c.1414G>A , LRG_518t2:c.1414G>A NP_065681.1:p.Ala472Thr
NM_020630.5:c.1414G>A NP_065681.1:p.Ala472Thr
NM_020630.6:c.1414G>A NP_065681.1:p.Ala472Thr
NM_020975.4:c.1414G>A , LRG_518t1:c.1414G>A NP_066124.1:p.Ala472Thr
NM_020975.5:c.1414G>A NP_066124.1:p.Ala472Thr
ENST00000340058.5:c.1414G>A ENSP00000344798.4:p.Ala472Thr
ENST00000340058.6:c.1414G>A ENSP00000344798.4:p.Ala472Thr
ENST00000355710.7:c.1414G>A ENSP00000347942.3:p.Ala472Thr
ENST00000498820.5:c.74-742G>A ENSP00000419080.1:n.74-742G>A
ENST00000615310.4:c.1289+125G>A ENSP00000480088.1:n.1289+125G>A
ENST00000615310.5:c.1018G>A ENSP00000480088.2:p.Ala340Thr
ENST00000671844.1:c.*8G>A ENSP00000500541.1:n.*8G>A
ENST00000672389.1:c.*8G>A ENSP00000500252.1:n.*8G>A
ENST00000683007.1:n.988G>A
ENST00000683872.1:n.175G>A
XM_011540027.1:c.1414G>A XP_011538329.1:p.Ala472Thr