Canonical Allele Identifier: CA7725472
Community Standard Title: NM_016321.3(RHCG):c.859C>T (p.Leu287Phe)
Gene: RHCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89477953G>A , CM000677.2:g.89477953G>A GRCh38
NC_000015.9:g.90021184G>A , CM000677.1:g.90021184G>A GRCh37
NC_000015.8:g.87822188G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016321.3:c.859C>T MANE Select NP_057405.1:p.Leu287Phe
ENST00000268122.9:c.859C>T MANE Select ENSP00000268122.4:p.Leu287Phe
NM_001321041.1:c.859C>T NP_001307970.1:p.Leu287Phe
NM_001321041.2:c.859C>T NP_001307970.1:p.Leu287Phe
NM_016321.2:c.859C>T NP_057405.1:p.Leu287Phe
NR_110261.1:n.928C>T
NR_110261.2:n.898C>T
ENST00000268122.8:c.859C>T ENSP00000268122.4:p.Leu287Phe
ENST00000558030.5:c.663C>T ENSP00000452899.1:p.Arg221=
ENST00000558184.1:c.*707C>T ENSP00000453716.1:n.*707C>T
ENST00000558360.1:c.131C>T
ENST00000559638.1:n.437C>T
ENST00000560081.5:c.859C>T ENSP00000453588.1:p.Leu287Phe
ENST00000649642.1:c.859C>T ENSP00000497611.1:p.Leu287Phe
XM_011521663.1:c.859C>T XP_011519965.1:p.Leu287Phe