Canonical Allele Identifier: CA411796404

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019828T>A (hg19) ; chr22:g.42623822T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623822T>A , CM000684.2:g.42623822T>A	GRCh38
NC_000022.10:g.43019828T>A , CM000684.1:g.43019828T>A	GRCh37
NC_000022.9:g.41349772T>A	NCBI36
NG_012194.1:g.30578A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.832A>T	ENSP00000354468.5:p.Lys278Ter
ENST00000402438.6:c.631A>T	ENSP00000385679.1:p.Lys211Ter
ENST00000407332.6:c.718A>T	ENSP00000384457.2:p.Lys240Ter
ENST00000407623.8:c.631A>T	ENSP00000384834.3:p.Lys211Ter
ENST00000617178.5:c.237A>T
ENST00000684963.1:n.2440A>T
ENST00000685184.1:n.292A>T
ENST00000686523.1:c.*649A>T	ENSP00000508940.1:n.*649A>T
ENST00000687183.1:n.976A>T
ENST00000687198.1:c.631A>T	ENSP00000508492.1:p.Lys211Ter
ENST00000688117.1:c.799A>T	ENSP00000509015.1:p.Lys267Ter
ENST00000688244.1:c.400A>T	ENSP00000510355.1:p.Lys134Ter
ENST00000689001.1:n.1322A>T
ENST00000689195.1:c.616A>T	ENSP00000509895.1:p.Lys206Ter
ENST00000689239.1:n.867A>T
ENST00000689795.1:n.961A>T
ENST00000690835.1:c.*79A>T	ENSP00000509038.1:n.*79A>T
ENST00000690993.1:n.1455A>T
ENST00000691295.1:c.*183A>T	ENSP00000508706.1:n.*183A>T
ENST00000691918.1:c.990A>T	ENSP00000509525.1:n.990A>T
ENST00000692152.1:c.631A>T	ENSP00000509317.1:p.Lys211Ter
ENST00000692344.1:n.1187A>T
ENST00000693363.1:c.742A>T	ENSP00000510411.1:p.Lys248Ter
ENST00000693367.1:c.700A>T	ENSP00000508815.1:p.Lys234Ter
ENST00000693639.1:c.693A>T	ENSP00000510223.1:n.693A>T
ENST00000693646.1:c.606A>T	ENSP00000508449.1:n.606A>T
ENST00000352397.10:c.700A>T MANE Select	ENSP00000338461.6:p.Lys234Ter
ENST00000352397.9:c.700A>T	ENSP00000338461.6:p.Lys234Ter
ENST00000361740.8:c.799A>T	ENSP00000354468.4:p.Lys267Ter
ENST00000402438.5:c.631A>T	ENSP00000385679.1:p.Lys211Ter
ENST00000407332.5:c.631A>T	ENSP00000384457.1:p.Lys211Ter
ENST00000407623.7:c.631A>T	ENSP00000384834.3:p.Lys211Ter
ENST00000470741.1:n.2834A>T
NM_000398.6:c.700A>T	NP_000389.1:p.Lys234Ter
NM_001129819.2:c.631A>T	NP_001123291.1:p.Lys211Ter
NM_001171660.1:c.799A>T	NP_001165131.1:p.Lys267Ter
NM_001171661.1:c.631A>T	NP_001165132.1:p.Lys211Ter
NM_007326.4:c.631A>T	NP_015565.1:p.Lys211Ter
NM_000398.7:c.700A>T MANE Select	NP_000389.1:p.Lys234Ter
NM_001171660.2:c.799A>T	NP_001165131.1:p.Lys267Ter