Canonical Allele Identifier: CA1978707603
Gene: RPS6KA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64362250G>T , CM000673.2:g.64362250G>T GRCh38
NC_000011.9:g.64129722G>T , CM000673.1:g.64129722G>T GRCh37
NC_000011.8:g.63886298G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334205.9:c.906+248G>T MANE Select ENSP00000333896.4:n.906+248G>T
ENST00000334205.8:c.906+248G>T ENSP00000333896.4:n.906+248G>T
ENST00000528057.5:c.906+248G>T ENSP00000435580.1:n.906+248G>T
ENST00000528355.5:c.*713+248G>T ENSP00000435314.1:n.*713+248G>T
ENST00000530504.1:c.858+248G>T ENSP00000432945.1:n.858+248G>T
ENST00000532885.5:n.465+248G>T
NM_001006944.1:c.906+248G>T NP_001006945.1:n.906+248G>T
NM_001300802.1:c.906+248G>T NP_001287731.1:n.906+248G>T
NM_003942.2:c.906+248G>T NP_003933.1:n.906+248G>T
XM_005274380.1:c.906+248G>T XP_005274437.1:n.906+248G>T
XM_005274381.3:c.717+248G>T XP_005274438.1:n.717+248G>T
NM_001318361.1:c.717+248G>T NP_001305290.1:n.717+248G>T
XM_017018527.2:c.-217+248G>T XP_016874016.1:n.-217+248G>T
NM_003942.3:c.906+248G>T MANE Select NP_003933.1:n.906+248G>T
NM_001006944.2:c.906+248G>T NP_001006945.1:n.906+248G>T
NM_001300802.2:c.906+248G>T NP_001287731.1:n.906+248G>T
NM_001318361.2:c.717+248G>T NP_001305290.1:n.717+248G>T