Canonical Allele Identifier: CA411796274

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019798C>A (hg19) ; chr22:g.42623792C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623792C>A , CM000684.2:g.42623792C>A	GRCh38
NC_000022.10:g.43019798C>A , CM000684.1:g.43019798C>A	GRCh37
NC_000022.9:g.41349742C>A	NCBI36
NG_012194.1:g.30608G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.862G>T	ENSP00000354468.5:p.Glu288Ter
ENST00000402438.6:c.661G>T	ENSP00000385679.1:p.Glu221Ter
ENST00000407332.6:c.748G>T	ENSP00000384457.2:p.Glu250Ter
ENST00000407623.8:c.661G>T	ENSP00000384834.3:p.Glu221Ter
ENST00000617178.5:c.267G>T
ENST00000684963.1:n.2470G>T
ENST00000685184.1:n.322G>T
ENST00000686523.1:c.*679G>T	ENSP00000508940.1:n.*679G>T
ENST00000687183.1:n.1006G>T
ENST00000687198.1:c.661G>T	ENSP00000508492.1:p.Glu221Ter
ENST00000688117.1:c.829G>T	ENSP00000509015.1:p.Glu277Ter
ENST00000688244.1:c.430G>T	ENSP00000510355.1:p.Glu144Ter
ENST00000689001.1:n.1352G>T
ENST00000689195.1:c.646G>T	ENSP00000509895.1:p.Glu216Ter
ENST00000689239.1:n.897G>T
ENST00000689795.1:n.991G>T
ENST00000690835.1:c.*109G>T	ENSP00000509038.1:n.*109G>T
ENST00000690993.1:n.1485G>T
ENST00000691295.1:c.*213G>T	ENSP00000508706.1:n.*213G>T
ENST00000691918.1:c.1020G>T	ENSP00000509525.1:n.1020G>T
ENST00000692152.1:c.661G>T	ENSP00000509317.1:p.Glu221Ter
ENST00000692344.1:n.1217G>T
ENST00000693363.1:c.772G>T	ENSP00000510411.1:p.Glu258Ter
ENST00000693367.1:c.730G>T	ENSP00000508815.1:p.Glu244Ter
ENST00000693639.1:c.723G>T	ENSP00000510223.1:n.723G>T
ENST00000693646.1:c.636G>T	ENSP00000508449.1:n.636G>T
ENST00000352397.10:c.730G>T MANE Select	ENSP00000338461.6:p.Glu244Ter
ENST00000352397.9:c.730G>T	ENSP00000338461.6:p.Glu244Ter
ENST00000361740.8:c.829G>T	ENSP00000354468.4:p.Glu277Ter
ENST00000402438.5:c.661G>T	ENSP00000385679.1:p.Glu221Ter
ENST00000407332.5:c.661G>T	ENSP00000384457.1:p.Glu221Ter
ENST00000407623.7:c.661G>T	ENSP00000384834.3:p.Glu221Ter
ENST00000470741.1:n.2864G>T
NM_000398.6:c.730G>T	NP_000389.1:p.Glu244Ter
NM_001129819.2:c.661G>T	NP_001123291.1:p.Glu221Ter
NM_001171660.1:c.829G>T	NP_001165131.1:p.Glu277Ter
NM_001171661.1:c.661G>T	NP_001165132.1:p.Glu221Ter
NM_007326.4:c.661G>T	NP_015565.1:p.Glu221Ter
NM_000398.7:c.730G>T MANE Select	NP_000389.1:p.Glu244Ter
NM_001171660.2:c.829G>T	NP_001165131.1:p.Glu277Ter