Canonical Allele Identifier: CA411796584

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1928119351
• gnomAD v3: 22-42623852-C-G
• gnomAD v4: 22-42623852-C-G
• MyVariant Identifiers: chr22:g.43019858C>G (hg19) ; chr22:g.42623852C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623852C>G , CM000684.2:g.42623852C>G	GRCh38
NC_000022.10:g.43019858C>G , CM000684.1:g.43019858C>G	GRCh37
NC_000022.9:g.41349802C>G	NCBI36
NG_012194.1:g.30548G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.802G>C	ENSP00000354468.5:p.Glu268Gln
ENST00000402438.6:c.601G>C	ENSP00000385679.1:p.Glu201Gln
ENST00000407332.6:c.688G>C	ENSP00000384457.2:p.Glu230Gln
ENST00000407623.8:c.601G>C	ENSP00000384834.3:p.Glu201Gln
ENST00000617178.5:c.207G>C
ENST00000684963.1:n.2410G>C
ENST00000685184.1:n.262G>C
ENST00000686523.1:c.*619G>C	ENSP00000508940.1:n.*619G>C
ENST00000687183.1:n.946G>C
ENST00000687198.1:c.601G>C	ENSP00000508492.1:p.Glu201Gln
ENST00000688117.1:c.769G>C	ENSP00000509015.1:p.Glu257Gln
ENST00000688244.1:c.370G>C	ENSP00000510355.1:p.Glu124Gln
ENST00000689001.1:n.1292G>C
ENST00000689195.1:c.586G>C	ENSP00000509895.1:p.Glu196Gln
ENST00000689239.1:n.837G>C
ENST00000689795.1:n.931G>C
ENST00000690835.1:c.*49G>C	ENSP00000509038.1:n.*49G>C
ENST00000690993.1:n.1425G>C
ENST00000691295.1:c.*153G>C	ENSP00000508706.1:n.*153G>C
ENST00000691918.1:c.960G>C	ENSP00000509525.1:n.960G>C
ENST00000692152.1:c.601G>C	ENSP00000509317.1:p.Glu201Gln
ENST00000692344.1:n.1157G>C
ENST00000693363.1:c.712G>C	ENSP00000510411.1:p.Glu238Gln
ENST00000693367.1:c.670G>C	ENSP00000508815.1:p.Glu224Gln
ENST00000693639.1:c.663G>C	ENSP00000510223.1:n.663G>C
ENST00000693646.1:c.576G>C	ENSP00000508449.1:n.576G>C
ENST00000352397.10:c.670G>C MANE Select	ENSP00000338461.6:p.Glu224Gln
ENST00000352397.9:c.670G>C	ENSP00000338461.6:p.Glu224Gln
ENST00000361740.8:c.769G>C	ENSP00000354468.4:p.Glu257Gln
ENST00000402438.5:c.601G>C	ENSP00000385679.1:p.Glu201Gln
ENST00000407332.5:c.601G>C	ENSP00000384457.1:p.Glu201Gln
ENST00000407623.7:c.601G>C	ENSP00000384834.3:p.Glu201Gln
ENST00000470741.1:n.2804G>C
NM_000398.6:c.670G>C	NP_000389.1:p.Glu224Gln
NM_001129819.2:c.601G>C	NP_001123291.1:p.Glu201Gln
NM_001171660.1:c.769G>C	NP_001165131.1:p.Glu257Gln
NM_001171661.1:c.601G>C	NP_001165132.1:p.Glu201Gln
NM_007326.4:c.601G>C	NP_015565.1:p.Glu201Gln
NM_000398.7:c.670G>C MANE Select	NP_000389.1:p.Glu224Gln
NM_001171660.2:c.769G>C	NP_001165131.1:p.Glu257Gln