Canonical Allele Identifier: CA469479619
Community Standard Title: NM_020975.6(RET):c.1296A>C (p.Ala432=)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43111239A>C , CM000672.2:g.43111239A>C GRCh38
NC_000010.10:g.43606687A>C , CM000672.1:g.43606687A>C GRCh37
NC_000010.9:g.42926693A>C NCBI36
NG_007489.1:g.39171A>C , LRG_518:g.39171A>C

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1296A>C MANE Select NP_066124.1:p.Ala432=
ENST00000355710.8:c.1296A>C MANE Select ENSP00000347942.3:p.Ala432=
NM_001355216.1:c.534A>C NP_001342145.1:p.Ala178=
NM_020630.4:c.1296A>C , LRG_518t2:c.1296A>C NP_065681.1:p.Ala432=
NM_020630.5:c.1296A>C NP_065681.1:p.Ala432=
NM_020630.6:c.1296A>C NP_065681.1:p.Ala432=
NM_020975.4:c.1296A>C , LRG_518t1:c.1296A>C NP_066124.1:p.Ala432=
NM_020975.5:c.1296A>C NP_066124.1:p.Ala432=
ENST00000340058.5:c.1296A>C ENSP00000344798.4:p.Ala432=
ENST00000340058.6:c.1296A>C ENSP00000344798.4:p.Ala432=
ENST00000355710.7:c.1296A>C ENSP00000347942.3:p.Ala432=
ENST00000498820.5:c.74-860A>C ENSP00000419080.1:n.74-860A>C
ENST00000615310.4:c.1289+7A>C ENSP00000480088.1:n.1289+7A>C
ENST00000615310.5:c.900A>C ENSP00000480088.2:p.Ala300=
ENST00000671844.1:c.658A>C ENSP00000500541.1:p.Ile220Leu
ENST00000672389.1:c.106A>C ENSP00000500252.1:p.Ile36Leu
ENST00000683007.1:n.870A>C
ENST00000683872.1:n.57A>C
XM_011540027.1:c.1296A>C XP_011538329.1:p.Ala432=