Canonical Allele Identifier: CA324698983

Gene: CYB5R3

Linked Data

• dbSNP Id: rs199777328
• MyVariant Identifiers: chr22:g.43023347T>A (hg19) ; chr22:g.42627341T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627341T>A , CM000684.2:g.42627341T>A	GRCh38
NC_000022.10:g.43023347T>A , CM000684.1:g.43023347T>A	GRCh37
NC_000022.9:g.41353291T>A	NCBI36
NG_012194.1:g.27059A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.728A>T	ENSP00000354468.5:p.Asp243Val
ENST00000402438.6:c.527A>T	ENSP00000385679.1:p.Asp176Val
ENST00000407332.6:c.614A>T	ENSP00000384457.2:p.Asp205Val
ENST00000407623.8:c.527A>T	ENSP00000384834.3:p.Asp176Val
ENST00000617178.5:c.133A>T
ENST00000684963.1:n.2336A>T
ENST00000686523.1:c.*545A>T	ENSP00000508940.1:n.*545A>T
ENST00000687183.1:n.872A>T
ENST00000687198.1:c.527A>T	ENSP00000508492.1:p.Asp176Val
ENST00000688117.1:c.695A>T	ENSP00000509015.1:p.Asp232Val
ENST00000688244.1:c.334-3453A>T	ENSP00000510355.1:n.334-3453A>T
ENST00000689001.1:n.1218A>T
ENST00000689195.1:c.512A>T	ENSP00000509895.1:p.Asp171Val
ENST00000689239.1:n.763A>T
ENST00000689795.1:n.758A>T
ENST00000690835.1:c.596A>T	ENSP00000509038.1:p.Asp199Val
ENST00000690993.1:n.1351A>T
ENST00000691295.1:c.*79A>T	ENSP00000508706.1:n.*79A>T
ENST00000691918.1:c.575A>T	ENSP00000509525.1:p.Asp192Val
ENST00000692152.1:c.527A>T	ENSP00000509317.1:p.Asp176Val
ENST00000692344.1:n.1083A>T
ENST00000693363.1:c.638A>T	ENSP00000510411.1:p.Asp213Val
ENST00000693367.1:c.596A>T	ENSP00000508815.1:p.Asp199Val
ENST00000693639.1:c.589A>T	ENSP00000510223.1:n.589A>T
ENST00000693646.1:c.502A>T	ENSP00000508449.1:n.502A>T
ENST00000352397.10:c.596A>T MANE Select	ENSP00000338461.6:p.Asp199Val
ENST00000352397.9:c.596A>T	ENSP00000338461.6:p.Asp199Val
ENST00000361740.8:c.695A>T	ENSP00000354468.4:p.Asp232Val
ENST00000402438.5:c.527A>T	ENSP00000385679.1:p.Asp176Val
ENST00000407332.5:c.527A>T	ENSP00000384457.1:p.Asp176Val
ENST00000407623.7:c.527A>T	ENSP00000384834.3:p.Asp176Val
ENST00000470741.1:n.2730A>T
NM_000398.6:c.596A>T	NP_000389.1:p.Asp199Val
NM_001129819.2:c.527A>T	NP_001123291.1:p.Asp176Val
NM_001171660.1:c.695A>T	NP_001165131.1:p.Asp232Val
NM_001171661.1:c.527A>T	NP_001165132.1:p.Asp176Val
NM_007326.4:c.527A>T	NP_015565.1:p.Asp176Val
NM_000398.7:c.596A>T MANE Select	NP_000389.1:p.Asp199Val
NM_001171660.2:c.695A>T	NP_001165131.1:p.Asp232Val