Canonical Allele Identifier: CA1585898
Community Standard Title: NM_022128.3(RBKS):c.100C>T (p.Arg34Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27858561G>A , CM000664.2:g.27858561G>A GRCh38
NC_000002.11:g.28081428G>A , CM000664.1:g.28081428G>A GRCh37
NC_000002.10:g.27934932G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_022128.3:c.100C>T (RBKS) MANE Select NP_071411.1:p.Arg34Cys
ENST00000302188.8:c.100C>T (RBKS) MANE Select ENSP00000306817.3:p.Arg34Cys
NM_001287580.1:c.-102C>T (RBKS) NP_001274509.1:n.-102C>T
NM_001287580.2:c.-102C>T (RBKS) NP_001274509.1:n.-102C>T
NM_022128.2:c.100C>T (RBKS) NP_071411.1:p.Arg34Cys
ENST00000302188.7:c.100C>T (RBKS) ENSP00000306817.3:p.Arg34Cys
ENST00000448427.1:c.165-35972G>A (MRPL33) ENSP00000407385.1:n.165-35972G>A
ENST00000449378.1:c.*1027C>T (RBKS) ENSP00000413789.1:n.*1027C>T
ENST00000453412.1:c.*123C>T (RBKS) ENSP00000415975.1:n.*123C>T