Canonical Allele Identifier: CA411796335

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019813G>C (hg19) ; chr22:g.42623807G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623807G>C , CM000684.2:g.42623807G>C	GRCh38
NC_000022.10:g.43019813G>C , CM000684.1:g.43019813G>C	GRCh37
NC_000022.9:g.41349757G>C	NCBI36
NG_012194.1:g.30593C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.847C>G	ENSP00000354468.5:p.Leu283Val
ENST00000402438.6:c.646C>G	ENSP00000385679.1:p.Leu216Val
ENST00000407332.6:c.733C>G	ENSP00000384457.2:p.Leu245Val
ENST00000407623.8:c.646C>G	ENSP00000384834.3:p.Leu216Val
ENST00000617178.5:c.252C>G
ENST00000684963.1:n.2455C>G
ENST00000685184.1:n.307C>G
ENST00000686523.1:c.*664C>G	ENSP00000508940.1:n.*664C>G
ENST00000687183.1:n.991C>G
ENST00000687198.1:c.646C>G	ENSP00000508492.1:p.Leu216Val
ENST00000688117.1:c.814C>G	ENSP00000509015.1:p.Leu272Val
ENST00000688244.1:c.415C>G	ENSP00000510355.1:p.Leu139Val
ENST00000689001.1:n.1337C>G
ENST00000689195.1:c.631C>G	ENSP00000509895.1:p.Leu211Val
ENST00000689239.1:n.882C>G
ENST00000689795.1:n.976C>G
ENST00000690835.1:c.*94C>G	ENSP00000509038.1:n.*94C>G
ENST00000690993.1:n.1470C>G
ENST00000691295.1:c.*198C>G	ENSP00000508706.1:n.*198C>G
ENST00000691918.1:c.1005C>G	ENSP00000509525.1:n.1005C>G
ENST00000692152.1:c.646C>G	ENSP00000509317.1:p.Leu216Val
ENST00000692344.1:n.1202C>G
ENST00000693363.1:c.757C>G	ENSP00000510411.1:p.Leu253Val
ENST00000693367.1:c.715C>G	ENSP00000508815.1:p.Leu239Val
ENST00000693639.1:c.708C>G	ENSP00000510223.1:n.708C>G
ENST00000693646.1:c.621C>G	ENSP00000508449.1:n.621C>G
ENST00000352397.10:c.715C>G MANE Select	ENSP00000338461.6:p.Leu239Val
ENST00000352397.9:c.715C>G	ENSP00000338461.6:p.Leu239Val
ENST00000361740.8:c.814C>G	ENSP00000354468.4:p.Leu272Val
ENST00000402438.5:c.646C>G	ENSP00000385679.1:p.Leu216Val
ENST00000407332.5:c.646C>G	ENSP00000384457.1:p.Leu216Val
ENST00000407623.7:c.646C>G	ENSP00000384834.3:p.Leu216Val
ENST00000470741.1:n.2849C>G
NM_000398.6:c.715C>G	NP_000389.1:p.Leu239Val
NM_001129819.2:c.646C>G	NP_001123291.1:p.Leu216Val
NM_001171660.1:c.814C>G	NP_001165131.1:p.Leu272Val
NM_001171661.1:c.646C>G	NP_001165132.1:p.Leu216Val
NM_007326.4:c.646C>G	NP_015565.1:p.Leu216Val
NM_000398.7:c.715C>G MANE Select	NP_000389.1:p.Leu239Val
NM_001171660.2:c.814C>G	NP_001165131.1:p.Leu272Val