Canonical Allele Identifier: CA411797723

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43023348C>A (hg19) ; chr22:g.42627342C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627342C>A , CM000684.2:g.42627342C>A	GRCh38
NC_000022.10:g.43023348C>A , CM000684.1:g.43023348C>A	GRCh37
NC_000022.9:g.41353292C>A	NCBI36
NG_012194.1:g.27058G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.727G>T	ENSP00000354468.5:p.Asp243Tyr
ENST00000402438.6:c.526G>T	ENSP00000385679.1:p.Asp176Tyr
ENST00000407332.6:c.613G>T	ENSP00000384457.2:p.Asp205Tyr
ENST00000407623.8:c.526G>T	ENSP00000384834.3:p.Asp176Tyr
ENST00000617178.5:c.132G>T
ENST00000684963.1:n.2335G>T
ENST00000686523.1:c.*544G>T	ENSP00000508940.1:n.*544G>T
ENST00000687183.1:n.871G>T
ENST00000687198.1:c.526G>T	ENSP00000508492.1:p.Asp176Tyr
ENST00000688117.1:c.694G>T	ENSP00000509015.1:p.Asp232Tyr
ENST00000688244.1:c.334-3454G>T	ENSP00000510355.1:n.334-3454G>T
ENST00000689001.1:n.1217G>T
ENST00000689195.1:c.511G>T	ENSP00000509895.1:p.Asp171Tyr
ENST00000689239.1:n.762G>T
ENST00000689795.1:n.757G>T
ENST00000690835.1:c.595G>T	ENSP00000509038.1:p.Asp199Tyr
ENST00000690993.1:n.1350G>T
ENST00000691295.1:c.*78G>T	ENSP00000508706.1:n.*78G>T
ENST00000691918.1:c.574G>T	ENSP00000509525.1:p.Asp192Tyr
ENST00000692152.1:c.526G>T	ENSP00000509317.1:p.Asp176Tyr
ENST00000692344.1:n.1082G>T
ENST00000693363.1:c.637G>T	ENSP00000510411.1:p.Asp213Tyr
ENST00000693367.1:c.595G>T	ENSP00000508815.1:p.Asp199Tyr
ENST00000693639.1:c.588G>T	ENSP00000510223.1:n.588G>T
ENST00000693646.1:c.501G>T	ENSP00000508449.1:n.501G>T
ENST00000352397.10:c.595G>T MANE Select	ENSP00000338461.6:p.Asp199Tyr
ENST00000352397.9:c.595G>T	ENSP00000338461.6:p.Asp199Tyr
ENST00000361740.8:c.694G>T	ENSP00000354468.4:p.Asp232Tyr
ENST00000402438.5:c.526G>T	ENSP00000385679.1:p.Asp176Tyr
ENST00000407332.5:c.526G>T	ENSP00000384457.1:p.Asp176Tyr
ENST00000407623.7:c.526G>T	ENSP00000384834.3:p.Asp176Tyr
ENST00000470741.1:n.2729G>T
NM_000398.6:c.595G>T	NP_000389.1:p.Asp199Tyr
NM_001129819.2:c.526G>T	NP_001123291.1:p.Asp176Tyr
NM_001171660.1:c.694G>T	NP_001165131.1:p.Asp232Tyr
NM_001171661.1:c.526G>T	NP_001165132.1:p.Asp176Tyr
NM_007326.4:c.526G>T	NP_015565.1:p.Asp176Tyr
NM_000398.7:c.595G>T MANE Select	NP_000389.1:p.Asp199Tyr
NM_001171660.2:c.694G>T	NP_001165131.1:p.Asp232Tyr