Canonical Allele Identifier: CA514813103

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1949936802
• gnomAD v3: 22-42623877-G-A
• gnomAD v4: 22-42623877-G-A
• MyVariant Identifiers: chr22:g.43019883G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623877G>A , CM000684.2:g.42623877G>A	GRCh38
NC_000022.10:g.43019883G>A , CM000684.1:g.43019883G>A	GRCh37
NC_000022.9:g.41349827G>A	NCBI36
NG_012194.1:g.30523C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.777C>T	ENSP00000354468.5:p.Asp259=
ENST00000402438.6:c.576C>T	ENSP00000385679.1:p.Asp192=
ENST00000407332.6:c.663C>T	ENSP00000384457.2:p.Asp221=
ENST00000407623.8:c.576C>T	ENSP00000384834.3:p.Asp192=
ENST00000617178.5:c.182C>T
ENST00000684963.1:n.2385C>T
ENST00000685184.1:n.237C>T
ENST00000686523.1:c.*594C>T	ENSP00000508940.1:n.*594C>T
ENST00000687183.1:n.921C>T
ENST00000687198.1:c.576C>T	ENSP00000508492.1:p.Asp192=
ENST00000688117.1:c.744C>T	ENSP00000509015.1:p.Asp248=
ENST00000688244.1:c.345C>T	ENSP00000510355.1:p.Asp115=
ENST00000689001.1:n.1267C>T
ENST00000689195.1:c.561C>T	ENSP00000509895.1:p.Asp187=
ENST00000689239.1:n.812C>T
ENST00000689795.1:n.906C>T
ENST00000690835.1:c.*24C>T	ENSP00000509038.1:n.*24C>T
ENST00000690993.1:n.1400C>T
ENST00000691295.1:c.*128C>T	ENSP00000508706.1:n.*128C>T
ENST00000691918.1:c.935C>T	ENSP00000509525.1:n.935C>T
ENST00000692152.1:c.576C>T	ENSP00000509317.1:p.Asp192=
ENST00000692344.1:n.1132C>T
ENST00000693363.1:c.687C>T	ENSP00000510411.1:p.Asp229=
ENST00000693367.1:c.645C>T	ENSP00000508815.1:p.Asp215=
ENST00000693639.1:c.638C>T	ENSP00000510223.1:n.638C>T
ENST00000693646.1:c.551C>T	ENSP00000508449.1:n.551C>T
ENST00000352397.10:c.645C>T MANE Select	ENSP00000338461.6:p.Asp215=
ENST00000352397.9:c.645C>T	ENSP00000338461.6:p.Asp215=
ENST00000361740.8:c.744C>T	ENSP00000354468.4:p.Asp248=
ENST00000402438.5:c.576C>T	ENSP00000385679.1:p.Asp192=
ENST00000407332.5:c.576C>T	ENSP00000384457.1:p.Asp192=
ENST00000407623.7:c.576C>T	ENSP00000384834.3:p.Asp192=
ENST00000470741.1:n.2779C>T
NM_000398.6:c.645C>T	NP_000389.1:p.Asp215=
NM_001129819.2:c.576C>T	NP_001123291.1:p.Asp192=
NM_001171660.1:c.744C>T	NP_001165131.1:p.Asp248=
NM_001171661.1:c.576C>T	NP_001165132.1:p.Asp192=
NM_007326.4:c.576C>T	NP_015565.1:p.Asp192=
NM_000398.7:c.645C>T MANE Select	NP_000389.1:p.Asp215=
NM_001171660.2:c.744C>T	NP_001165131.1:p.Asp248=