Canonical Allele Identifier: CA411796333

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1197749779
• gnomAD v2: 22-43019812-A-C
• gnomAD v4: 22-42623806-A-C
• MyVariant Identifiers: chr22:g.43019812A>C (hg19) ; chr22:g.42623806A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623806A>C , CM000684.2:g.42623806A>C	GRCh38
NC_000022.10:g.43019812A>C , CM000684.1:g.43019812A>C	GRCh37
NC_000022.9:g.41349756A>C	NCBI36
NG_012194.1:g.30594T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.848T>G	ENSP00000354468.5:p.Leu283Arg
ENST00000402438.6:c.647T>G	ENSP00000385679.1:p.Leu216Arg
ENST00000407332.6:c.734T>G	ENSP00000384457.2:p.Leu245Arg
ENST00000407623.8:c.647T>G	ENSP00000384834.3:p.Leu216Arg
ENST00000617178.5:c.253T>G
ENST00000684963.1:n.2456T>G
ENST00000685184.1:n.308T>G
ENST00000686523.1:c.*665T>G	ENSP00000508940.1:n.*665T>G
ENST00000687183.1:n.992T>G
ENST00000687198.1:c.647T>G	ENSP00000508492.1:p.Leu216Arg
ENST00000688117.1:c.815T>G	ENSP00000509015.1:p.Leu272Arg
ENST00000688244.1:c.416T>G	ENSP00000510355.1:p.Leu139Arg
ENST00000689001.1:n.1338T>G
ENST00000689195.1:c.632T>G	ENSP00000509895.1:p.Leu211Arg
ENST00000689239.1:n.883T>G
ENST00000689795.1:n.977T>G
ENST00000690835.1:c.*95T>G	ENSP00000509038.1:n.*95T>G
ENST00000690993.1:n.1471T>G
ENST00000691295.1:c.*199T>G	ENSP00000508706.1:n.*199T>G
ENST00000691918.1:c.1006T>G	ENSP00000509525.1:n.1006T>G
ENST00000692152.1:c.647T>G	ENSP00000509317.1:p.Leu216Arg
ENST00000692344.1:n.1203T>G
ENST00000693363.1:c.758T>G	ENSP00000510411.1:p.Leu253Arg
ENST00000693367.1:c.716T>G	ENSP00000508815.1:p.Leu239Arg
ENST00000693639.1:c.709T>G	ENSP00000510223.1:n.709T>G
ENST00000693646.1:c.622T>G	ENSP00000508449.1:n.622T>G
ENST00000352397.10:c.716T>G MANE Select	ENSP00000338461.6:p.Leu239Arg
ENST00000352397.9:c.716T>G	ENSP00000338461.6:p.Leu239Arg
ENST00000361740.8:c.815T>G	ENSP00000354468.4:p.Leu272Arg
ENST00000402438.5:c.647T>G	ENSP00000385679.1:p.Leu216Arg
ENST00000407332.5:c.647T>G	ENSP00000384457.1:p.Leu216Arg
ENST00000407623.7:c.647T>G	ENSP00000384834.3:p.Leu216Arg
ENST00000470741.1:n.2850T>G
NM_000398.6:c.716T>G	NP_000389.1:p.Leu239Arg
NM_001129819.2:c.647T>G	NP_001123291.1:p.Leu216Arg
NM_001171660.1:c.815T>G	NP_001165131.1:p.Leu272Arg
NM_001171661.1:c.647T>G	NP_001165132.1:p.Leu216Arg
NM_007326.4:c.647T>G	NP_015565.1:p.Leu216Arg
NM_000398.7:c.716T>G MANE Select	NP_000389.1:p.Leu239Arg
NM_001171660.2:c.815T>G	NP_001165131.1:p.Leu272Arg