Canonical Allele Identifier: CA514812716

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1569316902
• MyVariant Identifiers: chr22:g.43019813G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.847C>T	ENSP00000354468.5:p.Leu283=
ENST00000402438.6:c.646C>T	ENSP00000385679.1:p.Leu216=
ENST00000407332.6:c.733C>T	ENSP00000384457.2:p.Leu245=
ENST00000407623.8:c.646C>T	ENSP00000384834.3:p.Leu216=
ENST00000617178.5:c.252C>T
ENST00000684963.1:n.2455C>T
ENST00000685184.1:n.307C>T
ENST00000686523.1:c.*664C>T	ENSP00000508940.1:n.*664C>T
ENST00000687183.1:n.991C>T
ENST00000687198.1:c.646C>T	ENSP00000508492.1:p.Leu216=
ENST00000688117.1:c.814C>T	ENSP00000509015.1:p.Leu272=
ENST00000688244.1:c.415C>T	ENSP00000510355.1:p.Leu139=
ENST00000689001.1:n.1337C>T
ENST00000689195.1:c.631C>T	ENSP00000509895.1:p.Leu211=
ENST00000689239.1:n.882C>T
ENST00000689795.1:n.976C>T
ENST00000690835.1:c.*94C>T	ENSP00000509038.1:n.*94C>T
ENST00000690993.1:n.1470C>T
ENST00000691295.1:c.*198C>T	ENSP00000508706.1:n.*198C>T
ENST00000691918.1:c.1005C>T	ENSP00000509525.1:n.1005C>T
ENST00000692152.1:c.646C>T	ENSP00000509317.1:p.Leu216=
ENST00000692344.1:n.1202C>T
ENST00000693363.1:c.757C>T	ENSP00000510411.1:p.Leu253=
ENST00000693367.1:c.715C>T	ENSP00000508815.1:p.Leu239=
ENST00000693639.1:c.708C>T	ENSP00000510223.1:n.708C>T
ENST00000693646.1:c.621C>T	ENSP00000508449.1:n.621C>T
ENST00000352397.10:c.715C>T MANE Select	ENSP00000338461.6:p.Leu239=
ENST00000352397.9:c.715C>T	ENSP00000338461.6:p.Leu239=
ENST00000361740.8:c.814C>T	ENSP00000354468.4:p.Leu272=
ENST00000402438.5:c.646C>T	ENSP00000385679.1:p.Leu216=
ENST00000407332.5:c.646C>T	ENSP00000384457.1:p.Leu216=
ENST00000407623.7:c.646C>T	ENSP00000384834.3:p.Leu216=
ENST00000470741.1:n.2849C>T
NM_000398.6:c.715C>T	NP_000389.1:p.Leu239=
NM_001129819.2:c.646C>T	NP_001123291.1:p.Leu216=
NM_001171660.1:c.814C>T	NP_001165131.1:p.Leu272=
NM_001171661.1:c.646C>T	NP_001165132.1:p.Leu216=
NM_007326.4:c.646C>T	NP_015565.1:p.Leu216=
NM_000398.7:c.715C>T MANE Select	NP_000389.1:p.Leu239=
NM_001171660.2:c.814C>T	NP_001165131.1:p.Leu272=