Canonical Allele Identifier: CA16043302
Gene: RPS6KA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 372845
ClinVar RCV Id: RCV000414370
dbSNP Id: rs1057518020
gnomAD v4: X-20187884-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.20187884C>T , CM000685.2:g.20187884C>T GRCh38
NC_000023.10:g.20206002C>T , CM000685.1:g.20206002C>T GRCh37
NC_000023.9:g.20115923C>T NCBI36
NG_007488.1:g.83749G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379565.9:c.718G>A MANE Select ENSP00000368884.3:p.Val240Ile
ENST00000457145.6:c.631G>A ENSP00000407655.2:p.Val211Ile
ENST00000642835.1:c.634G>A ENSP00000494769.1:p.Val212Ile
ENST00000643073.1:c.336G>A ENSP00000495839.1:n.336G>A
ENST00000643085.1:c.634G>A ENSP00000496271.1:p.Val212Ile
ENST00000643337.1:c.634G>A ENSP00000493487.1:p.Val212Ile
ENST00000643402.1:c.634G>A ENSP00000493862.1:p.Val212Ile
ENST00000644368.1:c.634G>A ENSP00000495776.1:p.Val212Ile
ENST00000644893.1:c.634G>A ENSP00000495974.1:p.Val212Ile
ENST00000645268.1:c.430+613G>A ENSP00000496226.1:n.430+613G>A
ENST00000645270.1:c.634G>A ENSP00000494967.1:p.Val212Ile
ENST00000646610.1:c.634G>A ENSP00000495462.1:p.Val212Ile
ENST00000647265.1:c.634G>A ENSP00000494220.1:p.Val212Ile
ENST00000379565.7:c.718G>A ENSP00000368884.3:p.Val240Ile
ENST00000457145.5:c.631G>A ENSP00000407655.1:p.Val211Ile
NM_004586.2:c.718G>A NP_004577.1:p.Val240Ile
XM_005274573.2:c.718G>A XP_005274630.1:p.Val240Ile
XM_005274577.2:c.631G>A XP_005274634.1:p.Val211Ile
XM_006724507.2:c.634G>A XP_006724570.1:p.Val212Ile
XM_011545555.1:c.718G>A XP_011543857.1:p.Val240Ile
XM_011545556.1:c.718G>A XP_011543858.1:p.Val240Ile
XM_011545557.1:c.634G>A XP_011543859.1:p.Val212Ile
XM_011545558.1:c.634G>A XP_011543860.1:p.Val212Ile
XM_011545559.1:c.634G>A XP_011543861.1:p.Val212Ile
XM_011545560.1:c.634G>A XP_011543862.1:p.Val212Ile
XM_011545561.1:c.634G>A XP_011543863.1:p.Val212Ile
XM_011545562.1:c.631G>A XP_011543864.1:p.Val211Ile
XM_011545563.1:c.634G>A XP_011543865.1:p.Val212Ile
XM_005274577.3:c.631G>A XP_005274634.1:p.Val211Ile
XM_006724507.3:c.634G>A XP_006724570.1:p.Val212Ile
XM_011545557.2:c.634G>A XP_011543859.1:p.Val212Ile
XM_011545558.2:c.634G>A XP_011543860.1:p.Val212Ile
XM_011545561.2:c.634G>A XP_011543863.1:p.Val212Ile
XM_011545562.2:c.631G>A XP_011543864.1:p.Val211Ile
XM_011545563.3:c.634G>A XP_011543865.1:p.Val212Ile
XM_017029713.1:c.634G>A XP_016885202.1:p.Val212Ile
XM_017029714.2:c.634G>A XP_016885203.1:p.Val212Ile
XM_017029715.2:c.634G>A XP_016885204.1:p.Val212Ile
XM_017029716.1:c.634G>A XP_016885205.1:p.Val212Ile
XM_017029717.2:c.634G>A XP_016885206.1:p.Val212Ile
XM_017029718.2:c.631G>A XP_016885207.1:p.Val211Ile
XM_017029719.2:c.634G>A XP_016885208.1:p.Val212Ile
NM_004586.3:c.718G>A MANE Select NP_004577.1:p.Val240Ile