Canonical Allele Identifier: CA411796500

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019845T>C (hg19) ; chr22:g.42623839T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623839T>C , CM000684.2:g.42623839T>C	GRCh38
NC_000022.10:g.43019845T>C , CM000684.1:g.43019845T>C	GRCh37
NC_000022.9:g.41349789T>C	NCBI36
NG_012194.1:g.30561A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.815A>G	ENSP00000354468.5:p.Lys272Arg
ENST00000402438.6:c.614A>G	ENSP00000385679.1:p.Lys205Arg
ENST00000407332.6:c.701A>G	ENSP00000384457.2:p.Lys234Arg
ENST00000407623.8:c.614A>G	ENSP00000384834.3:p.Lys205Arg
ENST00000617178.5:c.220A>G
ENST00000684963.1:n.2423A>G
ENST00000685184.1:n.275A>G
ENST00000686523.1:c.*632A>G	ENSP00000508940.1:n.*632A>G
ENST00000687183.1:n.959A>G
ENST00000687198.1:c.614A>G	ENSP00000508492.1:p.Lys205Arg
ENST00000688117.1:c.782A>G	ENSP00000509015.1:p.Lys261Arg
ENST00000688244.1:c.383A>G	ENSP00000510355.1:p.Lys128Arg
ENST00000689001.1:n.1305A>G
ENST00000689195.1:c.599A>G	ENSP00000509895.1:p.Lys200Arg
ENST00000689239.1:n.850A>G
ENST00000689795.1:n.944A>G
ENST00000690835.1:c.*62A>G	ENSP00000509038.1:n.*62A>G
ENST00000690993.1:n.1438A>G
ENST00000691295.1:c.*166A>G	ENSP00000508706.1:n.*166A>G
ENST00000691918.1:c.973A>G	ENSP00000509525.1:n.973A>G
ENST00000692152.1:c.614A>G	ENSP00000509317.1:p.Lys205Arg
ENST00000692344.1:n.1170A>G
ENST00000693363.1:c.725A>G	ENSP00000510411.1:p.Lys242Arg
ENST00000693367.1:c.683A>G	ENSP00000508815.1:p.Lys228Arg
ENST00000693639.1:c.676A>G	ENSP00000510223.1:n.676A>G
ENST00000693646.1:c.589A>G	ENSP00000508449.1:n.589A>G
ENST00000352397.10:c.683A>G MANE Select	ENSP00000338461.6:p.Lys228Arg
ENST00000352397.9:c.683A>G	ENSP00000338461.6:p.Lys228Arg
ENST00000361740.8:c.782A>G	ENSP00000354468.4:p.Lys261Arg
ENST00000402438.5:c.614A>G	ENSP00000385679.1:p.Lys205Arg
ENST00000407332.5:c.614A>G	ENSP00000384457.1:p.Lys205Arg
ENST00000407623.7:c.614A>G	ENSP00000384834.3:p.Lys205Arg
ENST00000470741.1:n.2817A>G
NM_000398.6:c.683A>G	NP_000389.1:p.Lys228Arg
NM_001129819.2:c.614A>G	NP_001123291.1:p.Lys205Arg
NM_001171660.1:c.782A>G	NP_001165131.1:p.Lys261Arg
NM_001171661.1:c.614A>G	NP_001165132.1:p.Lys205Arg
NM_007326.4:c.614A>G	NP_015565.1:p.Lys205Arg
NM_000398.7:c.683A>G MANE Select	NP_000389.1:p.Lys228Arg
NM_001171660.2:c.782A>G	NP_001165131.1:p.Lys261Arg