Canonical Allele Identifier: CA514813040

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623865-T-G
• MyVariant Identifiers: chr22:g.43019871T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623865T>G , CM000684.2:g.42623865T>G	GRCh38
NC_000022.10:g.43019871T>G , CM000684.1:g.43019871T>G	GRCh37
NC_000022.9:g.41349815T>G	NCBI36
NG_012194.1:g.30535A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.789A>C	ENSP00000354468.5:p.Arg263=
ENST00000402438.6:c.588A>C	ENSP00000385679.1:p.Arg196=
ENST00000407332.6:c.675A>C	ENSP00000384457.2:p.Arg225=
ENST00000407623.8:c.588A>C	ENSP00000384834.3:p.Arg196=
ENST00000617178.5:c.194A>C
ENST00000684963.1:n.2397A>C
ENST00000685184.1:n.249A>C
ENST00000686523.1:c.*606A>C	ENSP00000508940.1:n.*606A>C
ENST00000687183.1:n.933A>C
ENST00000687198.1:c.588A>C	ENSP00000508492.1:p.Arg196=
ENST00000688117.1:c.756A>C	ENSP00000509015.1:p.Arg252=
ENST00000688244.1:c.357A>C	ENSP00000510355.1:p.Arg119=
ENST00000689001.1:n.1279A>C
ENST00000689195.1:c.573A>C	ENSP00000509895.1:p.Arg191=
ENST00000689239.1:n.824A>C
ENST00000689795.1:n.918A>C
ENST00000690835.1:c.*36A>C	ENSP00000509038.1:n.*36A>C
ENST00000690993.1:n.1412A>C
ENST00000691295.1:c.*140A>C	ENSP00000508706.1:n.*140A>C
ENST00000691918.1:c.947A>C	ENSP00000509525.1:n.947A>C
ENST00000692152.1:c.588A>C	ENSP00000509317.1:p.Arg196=
ENST00000692344.1:n.1144A>C
ENST00000693363.1:c.699A>C	ENSP00000510411.1:p.Arg233=
ENST00000693367.1:c.657A>C	ENSP00000508815.1:p.Arg219=
ENST00000693639.1:c.650A>C	ENSP00000510223.1:n.650A>C
ENST00000693646.1:c.563A>C	ENSP00000508449.1:n.563A>C
ENST00000352397.10:c.657A>C MANE Select	ENSP00000338461.6:p.Arg219=
ENST00000352397.9:c.657A>C	ENSP00000338461.6:p.Arg219=
ENST00000361740.8:c.756A>C	ENSP00000354468.4:p.Arg252=
ENST00000402438.5:c.588A>C	ENSP00000385679.1:p.Arg196=
ENST00000407332.5:c.588A>C	ENSP00000384457.1:p.Arg196=
ENST00000407623.7:c.588A>C	ENSP00000384834.3:p.Arg196=
ENST00000470741.1:n.2791A>C
NM_000398.6:c.657A>C	NP_000389.1:p.Arg219=
NM_001129819.2:c.588A>C	NP_001123291.1:p.Arg196=
NM_001171660.1:c.756A>C	NP_001165131.1:p.Arg252=
NM_001171661.1:c.588A>C	NP_001165132.1:p.Arg196=
NM_007326.4:c.588A>C	NP_015565.1:p.Arg196=
NM_000398.7:c.657A>C MANE Select	NP_000389.1:p.Arg219=
NM_001171660.2:c.756A>C	NP_001165131.1:p.Arg252=