Canonical Allele Identifier: CA411796292

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1928113659
• gnomAD v3: 22-42623797-G-A
• gnomAD v4: 22-42623797-G-A
• MyVariant Identifiers: chr22:g.43019803G>A (hg19) ; chr22:g.42623797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623797G>A , CM000684.2:g.42623797G>A	GRCh38
NC_000022.10:g.43019803G>A , CM000684.1:g.43019803G>A	GRCh37
NC_000022.9:g.41349747G>A	NCBI36
NG_012194.1:g.30603C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.857C>T	ENSP00000354468.5:p.Ala286Val
ENST00000402438.6:c.656C>T	ENSP00000385679.1:p.Ala219Val
ENST00000407332.6:c.743C>T	ENSP00000384457.2:p.Ala248Val
ENST00000407623.8:c.656C>T	ENSP00000384834.3:p.Ala219Val
ENST00000617178.5:c.262C>T
ENST00000684963.1:n.2465C>T
ENST00000685184.1:n.317C>T
ENST00000686523.1:c.*674C>T	ENSP00000508940.1:n.*674C>T
ENST00000687183.1:n.1001C>T
ENST00000687198.1:c.656C>T	ENSP00000508492.1:p.Ala219Val
ENST00000688117.1:c.824C>T	ENSP00000509015.1:p.Ala275Val
ENST00000688244.1:c.425C>T	ENSP00000510355.1:p.Ala142Val
ENST00000689001.1:n.1347C>T
ENST00000689195.1:c.641C>T	ENSP00000509895.1:p.Ala214Val
ENST00000689239.1:n.892C>T
ENST00000689795.1:n.986C>T
ENST00000690835.1:c.*104C>T	ENSP00000509038.1:n.*104C>T
ENST00000690993.1:n.1480C>T
ENST00000691295.1:c.*208C>T	ENSP00000508706.1:n.*208C>T
ENST00000691918.1:c.1015C>T	ENSP00000509525.1:n.1015C>T
ENST00000692152.1:c.656C>T	ENSP00000509317.1:p.Ala219Val
ENST00000692344.1:n.1212C>T
ENST00000693363.1:c.767C>T	ENSP00000510411.1:p.Ala256Val
ENST00000693367.1:c.725C>T	ENSP00000508815.1:p.Ala242Val
ENST00000693639.1:c.718C>T	ENSP00000510223.1:n.718C>T
ENST00000693646.1:c.631C>T	ENSP00000508449.1:n.631C>T
ENST00000352397.10:c.725C>T MANE Select	ENSP00000338461.6:p.Ala242Val
ENST00000352397.9:c.725C>T	ENSP00000338461.6:p.Ala242Val
ENST00000361740.8:c.824C>T	ENSP00000354468.4:p.Ala275Val
ENST00000402438.5:c.656C>T	ENSP00000385679.1:p.Ala219Val
ENST00000407332.5:c.656C>T	ENSP00000384457.1:p.Ala219Val
ENST00000407623.7:c.656C>T	ENSP00000384834.3:p.Ala219Val
ENST00000470741.1:n.2859C>T
NM_000398.6:c.725C>T	NP_000389.1:p.Ala242Val
NM_001129819.2:c.656C>T	NP_001123291.1:p.Ala219Val
NM_001171660.1:c.824C>T	NP_001165131.1:p.Ala275Val
NM_001171661.1:c.656C>T	NP_001165132.1:p.Ala219Val
NM_007326.4:c.656C>T	NP_015565.1:p.Ala219Val
NM_000398.7:c.725C>T MANE Select	NP_000389.1:p.Ala242Val
NM_001171660.2:c.824C>T	NP_001165131.1:p.Ala275Val