Canonical Allele Identifier: CA469029056
Community Standard Title: NM_020975.6(RET):c.2722A>C (p.Arg908=)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43120195A>C , CM000672.2:g.43120195A>C GRCh38
NC_000010.10:g.43615643A>C , CM000672.1:g.43615643A>C GRCh37
NC_000010.9:g.42935649A>C NCBI36
NG_007489.1:g.48127A>C , LRG_518:g.48127A>C

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.2722A>C MANE Select NP_066124.1:p.Arg908=
ENST00000355710.8:c.2722A>C MANE Select ENSP00000347942.3:p.Arg908=
NM_001355216.1:c.1960A>C NP_001342145.1:p.Arg654=
NM_020630.4:c.2722A>C , LRG_518t2:c.2722A>C NP_065681.1:p.Arg908=
NM_020630.5:c.2722A>C NP_065681.1:p.Arg908=
NM_020630.6:c.2722A>C NP_065681.1:p.Arg908=
NM_020975.4:c.2722A>C , LRG_518t1:c.2722A>C NP_066124.1:p.Arg908=
NM_020975.5:c.2722A>C NP_066124.1:p.Arg908=
ENST00000340058.5:c.2722A>C ENSP00000344798.4:p.Arg908=
ENST00000340058.6:c.2722A>C ENSP00000344798.4:p.Arg908=
ENST00000355710.7:c.2722A>C ENSP00000347942.3:p.Arg908=
ENST00000615310.4:c.*71A>C ENSP00000480088.1:n.*71A>C
ENST00000615310.5:c.2326A>C ENSP00000480088.2:p.Arg776=
ENST00000671844.1:c.*1316A>C ENSP00000500541.1:n.*1316A>C
ENST00000672389.1:c.*1316A>C ENSP00000500252.1:n.*1316A>C
ENST00000683007.1:n.2296A>C
ENST00000683872.1:n.2287A>C
XM_011540027.1:c.2722A>C XP_011538329.1:p.Arg908=