Canonical Allele Identifier: CA412510820
Community Standard Title: NM_004586.3(RPS6KA3):c.17T>C (p.Leu6Pro)
Gene: RPS6KA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.20266616A>G , CM000685.2:g.20266616A>G GRCh38
NC_000023.10:g.20284734A>G , CM000685.1:g.20284734A>G GRCh37
NC_000023.9:g.20194655A>G NCBI36
NG_007488.1:g.5017T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004586.3:c.17T>C MANE Select NP_004577.1:p.Leu6Pro
ENST00000379565.9:c.17T>C MANE Select ENSP00000368884.3:p.Leu6Pro
NM_004586.2:c.17T>C NP_004577.1:p.Leu6Pro
ENST00000379565.7:c.17T>C ENSP00000368884.3:p.Leu6Pro
ENST00000438357.1:c.-105T>C ENSP00000388512.1:n.-105T>C
ENST00000492128.5:n.62+423T>C
ENST00000642835.1:c.-232+423T>C ENSP00000494769.1:n.-232+423T>C
ENST00000643337.1:c.-117+423T>C ENSP00000493487.1:n.-117+423T>C
ENST00000643402.1:c.-211+767T>C ENSP00000493862.1:n.-211+767T>C
ENST00000644368.1:c.-162T>C ENSP00000495776.1:n.-162T>C
ENST00000644893.1:c.-147+423T>C ENSP00000495974.1:n.-147+423T>C
ENST00000645268.1:c.-16+423T>C ENSP00000496226.1:n.-16+423T>C
ENST00000645270.1:c.-220T>C ENSP00000494967.1:n.-220T>C
ENST00000646610.1:c.-16+423T>C ENSP00000495462.1:n.-16+423T>C
XM_005274573.2:c.17T>C XP_005274630.1:p.Leu6Pro
XM_006724507.2:c.-147+423T>C XP_006724570.1:n.-147+423T>C
XM_006724507.3:c.-147+423T>C XP_006724570.1:n.-147+423T>C
XM_011545555.1:c.17T>C XP_011543857.1:p.Leu6Pro
XM_011545556.1:c.17T>C XP_011543858.1:p.Leu6Pro
XM_011545557.1:c.-199T>C XP_011543859.1:n.-199T>C
XM_011545557.2:c.-199T>C XP_011543859.1:n.-199T>C
XM_011545558.1:c.-263T>C XP_011543860.1:n.-263T>C
XM_011545558.2:c.-263T>C XP_011543860.1:n.-263T>C
XM_011545559.1:c.-211+423T>C XP_011543861.1:n.-211+423T>C
XM_011545560.1:c.-105T>C XP_011543862.1:n.-105T>C
XM_011545561.1:c.-16+423T>C XP_011543863.1:n.-16+423T>C
XM_011545561.2:c.-16+423T>C XP_011543863.1:n.-16+423T>C
XM_011545563.1:c.-199T>C XP_011543865.1:n.-199T>C
XM_011545563.3:c.-199T>C XP_011543865.1:n.-199T>C
XM_017029713.1:c.-147+423T>C XP_016885202.1:n.-147+423T>C
XM_017029714.2:c.-263T>C XP_016885203.1:n.-263T>C
XM_017029715.2:c.-211+423T>C XP_016885204.1:n.-211+423T>C
XM_017029716.1:c.-211+767T>C XP_016885205.1:n.-211+767T>C
XM_017029717.2:c.-16+423T>C XP_016885206.1:n.-16+423T>C
XM_017029719.2:c.-16+423T>C XP_016885208.1:n.-16+423T>C