Canonical Allele Identifier: CA9979826
Community Standard Title: NM_144770.5(RBM11):c.6C>A (p.Phe2Leu)
Gene: RBM11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.14216192C>A , CM000683.2:g.14216192C>A GRCh38
NC_000021.8:g.15588513C>A , CM000683.1:g.15588513C>A GRCh37
NC_000021.7:g.14510384C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_144770.5:c.6C>A MANE Select NP_658983.3:p.Phe2Leu
ENST00000400577.4:c.6C>A MANE Select ENSP00000383421.3:p.Phe2Leu
NM_001320602.1:c.6C>A NP_001307531.1:p.Phe2Leu
NM_001320602.2:c.6C>A NP_001307531.1:p.Phe2Leu
NM_144770.3:c.6C>A NP_658983.3:p.Phe2Leu
NM_144770.4:c.6C>A NP_658983.3:p.Phe2Leu
NR_135308.1:n.63C>A
NR_135308.2:n.36C>A
NR_135309.1:n.63C>A
NR_135309.2:n.36C>A
NR_135310.1:n.63C>A
NR_135310.2:n.36C>A
NR_135311.1:n.63C>A
NR_135311.2:n.36C>A
ENST00000400577.3:c.6C>A ENSP00000383421.3:p.Phe2Leu
ENST00000461088.1:n.39C>A
ENST00000468643.5:n.63C>A
ENST00000468788.5:n.48C>A
ENST00000495055.1:n.40C>A
XM_005260996.2:c.6C>A XP_005261053.1:p.Phe2Leu
XM_005260997.3:c.6C>A XP_005261054.1:p.Phe2Leu
XM_005260997.5:c.6C>A XP_005261054.1:p.Phe2Leu
XM_005260998.2:c.-347C>A XP_005261055.1:n.-347C>A
XM_006724017.2:c.6C>A XP_006724080.1:p.Phe2Leu
XM_017028386.1:c.-496C>A XP_016883875.1:n.-496C>A
XM_017028387.1:c.-486C>A XP_016883876.1:n.-486C>A