Canonical Allele Identifier: CA1159531
Community Standard Title: NM_020407.5(RHBG):c.860C>T (p.Ala287Val)
Gene: RHBG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156381825C>T , CM000663.2:g.156381825C>T GRCh38
NC_000001.10:g.156351616C>T , CM000663.1:g.156351616C>T GRCh37
NC_000001.9:g.154618240C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_020407.5:c.860C>T MANE Select NP_065140.3:p.Ala287Val
ENST00000537040.6:c.860C>T MANE Select ENSP00000441197.2:p.Ala287Val
NM_001256395.1:c.653C>T NP_001243324.1:p.Ala218Val
NM_001256395.2:c.653C>T NP_001243324.1:p.Ala218Val
NM_001256396.1:c.770C>T NP_001243325.1:p.Ala257Val
NM_001256396.2:c.770C>T NP_001243325.1:p.Ala257Val
NM_020407.4:c.860C>T NP_065140.3:p.Ala287Val
NR_046115.1:n.1058C>T
NR_046115.2:n.1036C>T
NR_146763.1:n.1767C>T
NR_146763.2:n.1745C>T
NR_146764.1:n.1044C>T
NR_146764.2:n.1022C>T
NR_146765.1:n.1044C>T
NR_146765.2:n.1022C>T
ENST00000451864.6:c.*781-243C>T ENSP00000389836.3:n.*781-243C>T
ENST00000537040.5:c.860C>T ENSP00000441197.2:p.Ala287Val
ENST00000612897.4:c.*471C>T ENSP00000477836.1:n.*471C>T
ENST00000613460.4:c.*689C>T ENSP00000483178.1:n.*689C>T
ENST00000618120.4:n.993C>T
ENST00000620376.4:c.1093C>T
XM_011509794.1:c.1097C>T XP_011508096.1:p.Ala366Val
XM_011509795.1:c.653C>T XP_011508097.1:p.Ala218Val
XM_011509796.1:c.653C>T XP_011508098.1:p.Ala218Val
XM_011509797.1:c.653C>T XP_011508099.1:p.Ala218Val
XM_011509798.1:c.782C>T XP_011508100.1:p.Ala261Val
XM_011509799.1:c.686C>T XP_011508101.1:p.Ala229Val
XM_011509799.2:c.686C>T XP_011508101.1:p.Ala229Val
XM_011509800.1:c.374C>T XP_011508102.1:p.Ala125Val
XM_011509800.2:c.374C>T XP_011508102.1:p.Ala125Val
XM_017001857.1:c.860C>T XP_016857346.1:p.Ala287Val
XM_017001858.1:c.860C>T XP_016857347.1:p.Ala287Val
XM_017001859.1:c.359C>T XP_016857348.1:p.Ala120Val
XR_001737323.1:n.907C>T
XR_001737324.1:n.907C>T
XR_001737325.1:n.999-243C>T
XR_001737328.1:n.907C>T
XR_001737329.1:n.907C>T
XR_001737330.1:n.907C>T
XR_001737332.1:n.641-243C>T
XR_921898.1:n.899C>T
XR_921899.1:n.899C>T
XR_921900.1:n.1006-243C>T