Canonical Allele Identifier: CA10269557

Gene: CYB5R3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42619789C>T , CM000684.2:g.42619789C>T	GRCh38
NC_000022.10:g.43015795C>T , CM000684.1:g.43015795C>T	GRCh37
NC_000022.9:g.41345739C>T	NCBI36
NG_012194.1:g.34611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.1022G>A	ENSP00000354468.5:p.Arg341His
ENST00000402438.6:c.821G>A	ENSP00000385679.1:p.Arg274His
ENST00000407332.6:c.908G>A	ENSP00000384457.2:p.Arg303His
ENST00000407623.8:c.821G>A	ENSP00000384834.3:p.Arg274His
ENST00000617178.5:c.427G>A
ENST00000684963.1:n.2630G>A
ENST00000685184.1:n.482G>A
ENST00000686523.1:c.*839G>A	ENSP00000508940.1:n.*839G>A
ENST00000687183.1:n.1166G>A
ENST00000687198.1:c.821G>A	ENSP00000508492.1:p.Arg274His
ENST00000688117.1:c.989G>A	ENSP00000509015.1:p.Arg330His
ENST00000688244.1:c.590G>A	ENSP00000510355.1:p.Arg197His
ENST00000689001.1:n.1512G>A
ENST00000689195.1:c.806G>A	ENSP00000509895.1:p.Arg269His
ENST00000689239.1:n.1057G>A
ENST00000689795.1:n.1151G>A
ENST00000690835.1:c.*269G>A	ENSP00000509038.1:n.*269G>A
ENST00000690993.1:n.1645G>A
ENST00000691295.1:c.*373G>A	ENSP00000508706.1:n.*373G>A
ENST00000692152.1:c.821G>A	ENSP00000509317.1:p.Arg274His
ENST00000692344.1:n.1377G>A
ENST00000693363.1:c.932G>A	ENSP00000510411.1:p.Arg311His
ENST00000693367.1:c.842+48G>A	ENSP00000508815.1:n.842+48G>A
ENST00000352397.10:c.890G>A MANE Select	ENSP00000338461.6:p.Arg297His
ENST00000352397.9:c.890G>A	ENSP00000338461.6:p.Arg297His
ENST00000361740.8:c.989G>A	ENSP00000354468.4:p.Arg330His
ENST00000402438.5:c.821G>A	ENSP00000385679.1:p.Arg274His
ENST00000407332.5:c.821G>A	ENSP00000384457.1:p.Arg274His
ENST00000407623.7:c.821G>A	ENSP00000384834.3:p.Arg274His
ENST00000470741.1:n.3024G>A
NM_000398.6:c.890G>A	NP_000389.1:p.Arg297His
NM_001129819.2:c.821G>A	NP_001123291.1:p.Arg274His
NM_001171660.1:c.989G>A	NP_001165131.1:p.Arg330His
NM_001171661.1:c.821G>A	NP_001165132.1:p.Arg274His
NM_007326.4:c.821G>A	NP_015565.1:p.Arg274His
NM_000398.7:c.890G>A MANE Select	NP_000389.1:p.Arg297His
NM_001171660.2:c.989G>A	NP_001165131.1:p.Arg330His