Canonical Allele Identifier: CA411796556

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1928119160
• MyVariant Identifiers: chr22:g.43019855G>A (hg19) ; chr22:g.42623849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623849G>A , CM000684.2:g.42623849G>A	GRCh38
NC_000022.10:g.43019855G>A , CM000684.1:g.43019855G>A	GRCh37
NC_000022.9:g.41349799G>A	NCBI36
NG_012194.1:g.30551C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.805C>T	ENSP00000354468.5:p.Leu269Phe
ENST00000402438.6:c.604C>T	ENSP00000385679.1:p.Leu202Phe
ENST00000407332.6:c.691C>T	ENSP00000384457.2:p.Leu231Phe
ENST00000407623.8:c.604C>T	ENSP00000384834.3:p.Leu202Phe
ENST00000617178.5:c.210C>T
ENST00000684963.1:n.2413C>T
ENST00000685184.1:n.265C>T
ENST00000686523.1:c.*622C>T	ENSP00000508940.1:n.*622C>T
ENST00000687183.1:n.949C>T
ENST00000687198.1:c.604C>T	ENSP00000508492.1:p.Leu202Phe
ENST00000688117.1:c.772C>T	ENSP00000509015.1:p.Leu258Phe
ENST00000688244.1:c.373C>T	ENSP00000510355.1:p.Leu125Phe
ENST00000689001.1:n.1295C>T
ENST00000689195.1:c.589C>T	ENSP00000509895.1:p.Leu197Phe
ENST00000689239.1:n.840C>T
ENST00000689795.1:n.934C>T
ENST00000690835.1:c.*52C>T	ENSP00000509038.1:n.*52C>T
ENST00000690993.1:n.1428C>T
ENST00000691295.1:c.*156C>T	ENSP00000508706.1:n.*156C>T
ENST00000691918.1:c.963C>T	ENSP00000509525.1:n.963C>T
ENST00000692152.1:c.604C>T	ENSP00000509317.1:p.Leu202Phe
ENST00000692344.1:n.1160C>T
ENST00000693363.1:c.715C>T	ENSP00000510411.1:p.Leu239Phe
ENST00000693367.1:c.673C>T	ENSP00000508815.1:p.Leu225Phe
ENST00000693639.1:c.666C>T	ENSP00000510223.1:n.666C>T
ENST00000693646.1:c.579C>T	ENSP00000508449.1:n.579C>T
ENST00000352397.10:c.673C>T MANE Select	ENSP00000338461.6:p.Leu225Phe
ENST00000352397.9:c.673C>T	ENSP00000338461.6:p.Leu225Phe
ENST00000361740.8:c.772C>T	ENSP00000354468.4:p.Leu258Phe
ENST00000402438.5:c.604C>T	ENSP00000385679.1:p.Leu202Phe
ENST00000407332.5:c.604C>T	ENSP00000384457.1:p.Leu202Phe
ENST00000407623.7:c.604C>T	ENSP00000384834.3:p.Leu202Phe
ENST00000470741.1:n.2807C>T
NM_000398.6:c.673C>T	NP_000389.1:p.Leu225Phe
NM_001129819.2:c.604C>T	NP_001123291.1:p.Leu202Phe
NM_001171660.1:c.772C>T	NP_001165131.1:p.Leu258Phe
NM_001171661.1:c.604C>T	NP_001165132.1:p.Leu202Phe
NM_007326.4:c.604C>T	NP_015565.1:p.Leu202Phe
NM_000398.7:c.673C>T MANE Select	NP_000389.1:p.Leu225Phe
NM_001171660.2:c.772C>T	NP_001165131.1:p.Leu258Phe