Canonical Allele Identifier: CA1159593

Gene: RHBG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156382162T>C , CM000663.2:g.156382162T>C	GRCh38
NC_000001.10:g.156351953T>C , CM000663.1:g.156351953T>C	GRCh37
NC_000001.9:g.154618577T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537040.6:c.1073T>C MANE Select	ENSP00000441197.2:p.Leu358Pro
ENST00000451864.6:c.*875T>C	ENSP00000389836.3:n.*875T>C
ENST00000494874.1:n.20T>C
ENST00000537040.5:c.1073T>C	ENSP00000441197.2:p.Leu358Pro
ENST00000612897.4:c.*684T>C	ENSP00000477836.1:n.*684T>C
ENST00000613460.4:c.*902T>C	ENSP00000483178.1:n.*902T>C
ENST00000618120.4:n.1206T>C
ENST00000620376.4:c.1306T>C
NM_001256395.1:c.866T>C	NP_001243324.1:p.Leu289Pro
NM_001256396.1:c.983T>C	NP_001243325.1:p.Leu328Pro
NM_020407.4:c.1073T>C	NP_065140.3:p.Leu358Pro
NR_046115.1:n.1271T>C
XM_011509794.1:c.1310T>C	XP_011508096.1:p.Leu437Pro
XM_011509795.1:c.866T>C	XP_011508097.1:p.Leu289Pro
XM_011509796.1:c.866T>C	XP_011508098.1:p.Leu289Pro
XM_011509797.1:c.866T>C	XP_011508099.1:p.Leu289Pro
XM_011509798.1:c.995T>C	XP_011508100.1:p.Leu332Pro
XM_011509799.1:c.899T>C	XP_011508101.1:p.Leu300Pro
XM_011509800.1:c.587T>C	XP_011508102.1:p.Leu196Pro
XR_921898.1:n.1112T>C
XR_921899.1:n.1112T>C
XR_921900.1:n.1100T>C
NR_146763.1:n.1980T>C
NR_146764.1:n.1257T>C
NR_146765.1:n.1257T>C
XM_011509799.2:c.899T>C	XP_011508101.1:p.Leu300Pro
XM_011509800.2:c.587T>C	XP_011508102.1:p.Leu196Pro
XM_017001857.1:c.1073T>C	XP_016857346.1:p.Leu358Pro
XM_017001858.1:c.1073T>C	XP_016857347.1:p.Leu358Pro
XM_017001859.1:c.572T>C	XP_016857348.1:p.Leu191Pro
XR_001737323.1:n.1120T>C
XR_001737324.1:n.1120T>C
XR_001737325.1:n.1093T>C
XR_001737328.1:n.1120T>C
XR_001737329.1:n.1120T>C
XR_001737330.1:n.1120T>C
XR_001737332.1:n.735T>C
NM_001256395.2:c.866T>C	NP_001243324.1:p.Leu289Pro
NM_001256396.2:c.983T>C	NP_001243325.1:p.Leu328Pro
NM_020407.5:c.1073T>C MANE Select	NP_065140.3:p.Leu358Pro
NR_046115.2:n.1249T>C
NR_146763.2:n.1958T>C
NR_146764.2:n.1235T>C
NR_146765.2:n.1235T>C