Canonical Allele Identifier: CA359563373
Gene: RICTOR HGNC NCBI

Linked Data

gnomAD v4: 5-38955605-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38955605T>A , CM000667.2:g.38955605T>A GRCh38
NC_000005.9:g.38955707T>A , CM000667.1:g.38955707T>A GRCh37
NC_000005.8:g.38991464T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000296782.10:c.2599A>T ENSP00000296782.5:p.Ser867Cys
ENST00000503698.2:c.559A>T ENSP00000518563.1:p.Ser187Cys
ENST00000514735.2:c.2551A>T ENSP00000423162.2:p.Ser851Cys
ENST00000711063.1:c.2599A>T ENSP00000518562.1:p.Ser867Cys
ENST00000357387.8:c.2599A>T MANE Select ENSP00000349959.3:p.Ser867Cys
ENST00000296782.9:c.2599A>T ENSP00000296782.5:p.Ser867Cys
ENST00000357387.7:c.2599A>T ENSP00000349959.3:p.Ser867Cys
ENST00000503698.1:n.559A>T
ENST00000511516.5:c.*1823A>T ENSP00000423019.1:n.*1823A>T
NM_001285439.1:c.2599A>T NP_001272368.1:p.Ser867Cys
NM_001285440.1:c.1744A>T NP_001272369.1:p.Ser582Cys
NM_152756.4:c.2599A>T NP_689969.2:p.Ser867Cys
XM_006714463.2:c.2599A>T XP_006714526.1:p.Ser867Cys
XM_011514005.1:c.2599A>T XP_011512307.1:p.Ser867Cys
XM_011514006.1:c.2410A>T XP_011512308.1:p.Ser804Cys
XM_011514007.1:c.1744A>T XP_011512309.1:p.Ser582Cys
XM_006714463.3:c.2599A>T XP_006714526.1:p.Ser867Cys
XM_011514005.2:c.2599A>T XP_011512307.1:p.Ser867Cys
XM_011514006.3:c.2410A>T XP_011512308.1:p.Ser804Cys
XM_017009311.1:c.2551A>T XP_016864800.1:p.Ser851Cys
XM_017009312.1:c.2551A>T XP_016864801.1:p.Ser851Cys
XM_017009313.1:c.2440A>T XP_016864802.1:p.Ser814Cys
XM_017009314.2:c.1744A>T XP_016864803.1:p.Ser582Cys
XM_017009315.2:c.1744A>T XP_016864804.1:p.Ser582Cys
NM_152756.5:c.2599A>T MANE Select NP_689969.2:p.Ser867Cys
NM_001285439.2:c.2599A>T NP_001272368.1:p.Ser867Cys
NM_001285440.2:c.1744A>T NP_001272369.1:p.Ser582Cys