Canonical Allele Identifier: CA411796512

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019848T>A (hg19) ; chr22:g.42623842T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623842T>A , CM000684.2:g.42623842T>A	GRCh38
NC_000022.10:g.43019848T>A , CM000684.1:g.43019848T>A	GRCh37
NC_000022.9:g.41349792T>A	NCBI36
NG_012194.1:g.30558A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.812A>T	ENSP00000354468.5:p.Asn271Ile
ENST00000402438.6:c.611A>T	ENSP00000385679.1:p.Asn204Ile
ENST00000407332.6:c.698A>T	ENSP00000384457.2:p.Asn233Ile
ENST00000407623.8:c.611A>T	ENSP00000384834.3:p.Asn204Ile
ENST00000617178.5:c.217A>T
ENST00000684963.1:n.2420A>T
ENST00000685184.1:n.272A>T
ENST00000686523.1:c.*629A>T	ENSP00000508940.1:n.*629A>T
ENST00000687183.1:n.956A>T
ENST00000687198.1:c.611A>T	ENSP00000508492.1:p.Asn204Ile
ENST00000688117.1:c.779A>T	ENSP00000509015.1:p.Asn260Ile
ENST00000688244.1:c.380A>T	ENSP00000510355.1:p.Asn127Ile
ENST00000689001.1:n.1302A>T
ENST00000689195.1:c.596A>T	ENSP00000509895.1:p.Asn199Ile
ENST00000689239.1:n.847A>T
ENST00000689795.1:n.941A>T
ENST00000690835.1:c.*59A>T	ENSP00000509038.1:n.*59A>T
ENST00000690993.1:n.1435A>T
ENST00000691295.1:c.*163A>T	ENSP00000508706.1:n.*163A>T
ENST00000691918.1:c.970A>T	ENSP00000509525.1:n.970A>T
ENST00000692152.1:c.611A>T	ENSP00000509317.1:p.Asn204Ile
ENST00000692344.1:n.1167A>T
ENST00000693363.1:c.722A>T	ENSP00000510411.1:p.Asn241Ile
ENST00000693367.1:c.680A>T	ENSP00000508815.1:p.Asn227Ile
ENST00000693639.1:c.673A>T	ENSP00000510223.1:n.673A>T
ENST00000693646.1:c.586A>T	ENSP00000508449.1:n.586A>T
ENST00000352397.10:c.680A>T MANE Select	ENSP00000338461.6:p.Asn227Ile
ENST00000352397.9:c.680A>T	ENSP00000338461.6:p.Asn227Ile
ENST00000361740.8:c.779A>T	ENSP00000354468.4:p.Asn260Ile
ENST00000402438.5:c.611A>T	ENSP00000385679.1:p.Asn204Ile
ENST00000407332.5:c.611A>T	ENSP00000384457.1:p.Asn204Ile
ENST00000407623.7:c.611A>T	ENSP00000384834.3:p.Asn204Ile
ENST00000470741.1:n.2814A>T
NM_000398.6:c.680A>T	NP_000389.1:p.Asn227Ile
NM_001129819.2:c.611A>T	NP_001123291.1:p.Asn204Ile
NM_001171660.1:c.779A>T	NP_001165131.1:p.Asn260Ile
NM_001171661.1:c.611A>T	NP_001165132.1:p.Asn204Ile
NM_007326.4:c.611A>T	NP_015565.1:p.Asn204Ile
NM_000398.7:c.680A>T MANE Select	NP_000389.1:p.Asn227Ile
NM_001171660.2:c.779A>T	NP_001165131.1:p.Asn260Ile