Canonical Allele Identifier: CA411796314

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019808G>C (hg19) ; chr22:g.42623802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623802G>C , CM000684.2:g.42623802G>C	GRCh38
NC_000022.10:g.43019808G>C , CM000684.1:g.43019808G>C	GRCh37
NC_000022.9:g.41349752G>C	NCBI36
NG_012194.1:g.30598C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.852C>G	ENSP00000354468.5:p.Asp284Glu
ENST00000402438.6:c.651C>G	ENSP00000385679.1:p.Asp217Glu
ENST00000407332.6:c.738C>G	ENSP00000384457.2:p.Asp246Glu
ENST00000407623.8:c.651C>G	ENSP00000384834.3:p.Asp217Glu
ENST00000617178.5:c.257C>G
ENST00000684963.1:n.2460C>G
ENST00000685184.1:n.312C>G
ENST00000686523.1:c.*669C>G	ENSP00000508940.1:n.*669C>G
ENST00000687183.1:n.996C>G
ENST00000687198.1:c.651C>G	ENSP00000508492.1:p.Asp217Glu
ENST00000688117.1:c.819C>G	ENSP00000509015.1:p.Asp273Glu
ENST00000688244.1:c.420C>G	ENSP00000510355.1:p.Asp140Glu
ENST00000689001.1:n.1342C>G
ENST00000689195.1:c.636C>G	ENSP00000509895.1:p.Asp212Glu
ENST00000689239.1:n.887C>G
ENST00000689795.1:n.981C>G
ENST00000690835.1:c.*99C>G	ENSP00000509038.1:n.*99C>G
ENST00000690993.1:n.1475C>G
ENST00000691295.1:c.*203C>G	ENSP00000508706.1:n.*203C>G
ENST00000691918.1:c.1010C>G	ENSP00000509525.1:n.1010C>G
ENST00000692152.1:c.651C>G	ENSP00000509317.1:p.Asp217Glu
ENST00000692344.1:n.1207C>G
ENST00000693363.1:c.762C>G	ENSP00000510411.1:p.Asp254Glu
ENST00000693367.1:c.720C>G	ENSP00000508815.1:p.Asp240Glu
ENST00000693639.1:c.713C>G	ENSP00000510223.1:n.713C>G
ENST00000693646.1:c.626C>G	ENSP00000508449.1:n.626C>G
ENST00000352397.10:c.720C>G MANE Select	ENSP00000338461.6:p.Asp240Glu
ENST00000352397.9:c.720C>G	ENSP00000338461.6:p.Asp240Glu
ENST00000361740.8:c.819C>G	ENSP00000354468.4:p.Asp273Glu
ENST00000402438.5:c.651C>G	ENSP00000385679.1:p.Asp217Glu
ENST00000407332.5:c.651C>G	ENSP00000384457.1:p.Asp217Glu
ENST00000407623.7:c.651C>G	ENSP00000384834.3:p.Asp217Glu
ENST00000470741.1:n.2854C>G
NM_000398.6:c.720C>G	NP_000389.1:p.Asp240Glu
NM_001129819.2:c.651C>G	NP_001123291.1:p.Asp217Glu
NM_001171660.1:c.819C>G	NP_001165131.1:p.Asp273Glu
NM_001171661.1:c.651C>G	NP_001165132.1:p.Asp217Glu
NM_007326.4:c.651C>G	NP_015565.1:p.Asp217Glu
NM_000398.7:c.720C>G MANE Select	NP_000389.1:p.Asp240Glu
NM_001171660.2:c.819C>G	NP_001165131.1:p.Asp273Glu