Canonical Allele Identifier: CA411796522

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019849T>C (hg19) ; chr22:g.42623843T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623843T>C , CM000684.2:g.42623843T>C	GRCh38
NC_000022.10:g.43019849T>C , CM000684.1:g.43019849T>C	GRCh37
NC_000022.9:g.41349793T>C	NCBI36
NG_012194.1:g.30557A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.811A>G	ENSP00000354468.5:p.Asn271Asp
ENST00000402438.6:c.610A>G	ENSP00000385679.1:p.Asn204Asp
ENST00000407332.6:c.697A>G	ENSP00000384457.2:p.Asn233Asp
ENST00000407623.8:c.610A>G	ENSP00000384834.3:p.Asn204Asp
ENST00000617178.5:c.216A>G
ENST00000684963.1:n.2419A>G
ENST00000685184.1:n.271A>G
ENST00000686523.1:c.*628A>G	ENSP00000508940.1:n.*628A>G
ENST00000687183.1:n.955A>G
ENST00000687198.1:c.610A>G	ENSP00000508492.1:p.Asn204Asp
ENST00000688117.1:c.778A>G	ENSP00000509015.1:p.Asn260Asp
ENST00000688244.1:c.379A>G	ENSP00000510355.1:p.Asn127Asp
ENST00000689001.1:n.1301A>G
ENST00000689195.1:c.595A>G	ENSP00000509895.1:p.Asn199Asp
ENST00000689239.1:n.846A>G
ENST00000689795.1:n.940A>G
ENST00000690835.1:c.*58A>G	ENSP00000509038.1:n.*58A>G
ENST00000690993.1:n.1434A>G
ENST00000691295.1:c.*162A>G	ENSP00000508706.1:n.*162A>G
ENST00000691918.1:c.969A>G	ENSP00000509525.1:n.969A>G
ENST00000692152.1:c.610A>G	ENSP00000509317.1:p.Asn204Asp
ENST00000692344.1:n.1166A>G
ENST00000693363.1:c.721A>G	ENSP00000510411.1:p.Asn241Asp
ENST00000693367.1:c.679A>G	ENSP00000508815.1:p.Asn227Asp
ENST00000693639.1:c.672A>G	ENSP00000510223.1:n.672A>G
ENST00000693646.1:c.585A>G	ENSP00000508449.1:n.585A>G
ENST00000352397.10:c.679A>G MANE Select	ENSP00000338461.6:p.Asn227Asp
ENST00000352397.9:c.679A>G	ENSP00000338461.6:p.Asn227Asp
ENST00000361740.8:c.778A>G	ENSP00000354468.4:p.Asn260Asp
ENST00000402438.5:c.610A>G	ENSP00000385679.1:p.Asn204Asp
ENST00000407332.5:c.610A>G	ENSP00000384457.1:p.Asn204Asp
ENST00000407623.7:c.610A>G	ENSP00000384834.3:p.Asn204Asp
ENST00000470741.1:n.2813A>G
NM_000398.6:c.679A>G	NP_000389.1:p.Asn227Asp
NM_001129819.2:c.610A>G	NP_001123291.1:p.Asn204Asp
NM_001171660.1:c.778A>G	NP_001165131.1:p.Asn260Asp
NM_001171661.1:c.610A>G	NP_001165132.1:p.Asn204Asp
NM_007326.4:c.610A>G	NP_015565.1:p.Asn204Asp
NM_000398.7:c.679A>G MANE Select	NP_000389.1:p.Asn227Asp
NM_001171660.2:c.778A>G	NP_001165131.1:p.Asn260Asp