Canonical Allele Identifier: CA411796680

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019876G>C (hg19) ; chr22:g.42623870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623870G>C , CM000684.2:g.42623870G>C	GRCh38
NC_000022.10:g.43019876G>C , CM000684.1:g.43019876G>C	GRCh37
NC_000022.9:g.41349820G>C	NCBI36
NG_012194.1:g.30530C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.784C>G	ENSP00000354468.5:p.Leu262Val
ENST00000402438.6:c.583C>G	ENSP00000385679.1:p.Leu195Val
ENST00000407332.6:c.670C>G	ENSP00000384457.2:p.Leu224Val
ENST00000407623.8:c.583C>G	ENSP00000384834.3:p.Leu195Val
ENST00000617178.5:c.189C>G
ENST00000684963.1:n.2392C>G
ENST00000685184.1:n.244C>G
ENST00000686523.1:c.*601C>G	ENSP00000508940.1:n.*601C>G
ENST00000687183.1:n.928C>G
ENST00000687198.1:c.583C>G	ENSP00000508492.1:p.Leu195Val
ENST00000688117.1:c.751C>G	ENSP00000509015.1:p.Leu251Val
ENST00000688244.1:c.352C>G	ENSP00000510355.1:p.Leu118Val
ENST00000689001.1:n.1274C>G
ENST00000689195.1:c.568C>G	ENSP00000509895.1:p.Leu190Val
ENST00000689239.1:n.819C>G
ENST00000689795.1:n.913C>G
ENST00000690835.1:c.*31C>G	ENSP00000509038.1:n.*31C>G
ENST00000690993.1:n.1407C>G
ENST00000691295.1:c.*135C>G	ENSP00000508706.1:n.*135C>G
ENST00000691918.1:c.942C>G	ENSP00000509525.1:n.942C>G
ENST00000692152.1:c.583C>G	ENSP00000509317.1:p.Leu195Val
ENST00000692344.1:n.1139C>G
ENST00000693363.1:c.694C>G	ENSP00000510411.1:p.Leu232Val
ENST00000693367.1:c.652C>G	ENSP00000508815.1:p.Leu218Val
ENST00000693639.1:c.645C>G	ENSP00000510223.1:n.645C>G
ENST00000693646.1:c.558C>G	ENSP00000508449.1:n.558C>G
ENST00000352397.10:c.652C>G MANE Select	ENSP00000338461.6:p.Leu218Val
ENST00000352397.9:c.652C>G	ENSP00000338461.6:p.Leu218Val
ENST00000361740.8:c.751C>G	ENSP00000354468.4:p.Leu251Val
ENST00000402438.5:c.583C>G	ENSP00000385679.1:p.Leu195Val
ENST00000407332.5:c.583C>G	ENSP00000384457.1:p.Leu195Val
ENST00000407623.7:c.583C>G	ENSP00000384834.3:p.Leu195Val
ENST00000470741.1:n.2786C>G
NM_000398.6:c.652C>G	NP_000389.1:p.Leu218Val
NM_001129819.2:c.583C>G	NP_001123291.1:p.Leu195Val
NM_001171660.1:c.751C>G	NP_001165131.1:p.Leu251Val
NM_001171661.1:c.583C>G	NP_001165132.1:p.Leu195Val
NM_007326.4:c.583C>G	NP_015565.1:p.Leu195Val
NM_000398.7:c.652C>G MANE Select	NP_000389.1:p.Leu218Val
NM_001171660.2:c.751C>G	NP_001165131.1:p.Leu251Val