Canonical Allele Identifier: CA324695712

Gene: CYB5R3

Linked Data

• dbSNP Id: rs978185135
• gnomAD v3: 22-42623795-G-C
• gnomAD v4: 22-42623795-G-C
• MyVariant Identifiers: chr22:g.43019801G>C (hg19) ; chr22:g.42623795G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623795G>C , CM000684.2:g.42623795G>C	GRCh38
NC_000022.10:g.43019801G>C , CM000684.1:g.43019801G>C	GRCh37
NC_000022.9:g.41349745G>C	NCBI36
NG_012194.1:g.30605C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.859C>G	ENSP00000354468.5:p.Pro287Ala
ENST00000402438.6:c.658C>G	ENSP00000385679.1:p.Pro220Ala
ENST00000407332.6:c.745C>G	ENSP00000384457.2:p.Pro249Ala
ENST00000407623.8:c.658C>G	ENSP00000384834.3:p.Pro220Ala
ENST00000617178.5:c.264C>G
ENST00000684963.1:n.2467C>G
ENST00000685184.1:n.319C>G
ENST00000686523.1:c.*676C>G	ENSP00000508940.1:n.*676C>G
ENST00000687183.1:n.1003C>G
ENST00000687198.1:c.658C>G	ENSP00000508492.1:p.Pro220Ala
ENST00000688117.1:c.826C>G	ENSP00000509015.1:p.Pro276Ala
ENST00000688244.1:c.427C>G	ENSP00000510355.1:p.Pro143Ala
ENST00000689001.1:n.1349C>G
ENST00000689195.1:c.643C>G	ENSP00000509895.1:p.Pro215Ala
ENST00000689239.1:n.894C>G
ENST00000689795.1:n.988C>G
ENST00000690835.1:c.*106C>G	ENSP00000509038.1:n.*106C>G
ENST00000690993.1:n.1482C>G
ENST00000691295.1:c.*210C>G	ENSP00000508706.1:n.*210C>G
ENST00000691918.1:c.1017C>G	ENSP00000509525.1:n.1017C>G
ENST00000692152.1:c.658C>G	ENSP00000509317.1:p.Pro220Ala
ENST00000692344.1:n.1214C>G
ENST00000693363.1:c.769C>G	ENSP00000510411.1:p.Pro257Ala
ENST00000693367.1:c.727C>G	ENSP00000508815.1:p.Pro243Ala
ENST00000693639.1:c.720C>G	ENSP00000510223.1:n.720C>G
ENST00000693646.1:c.633C>G	ENSP00000508449.1:n.633C>G
ENST00000352397.10:c.727C>G MANE Select	ENSP00000338461.6:p.Pro243Ala
ENST00000352397.9:c.727C>G	ENSP00000338461.6:p.Pro243Ala
ENST00000361740.8:c.826C>G	ENSP00000354468.4:p.Pro276Ala
ENST00000402438.5:c.658C>G	ENSP00000385679.1:p.Pro220Ala
ENST00000407332.5:c.658C>G	ENSP00000384457.1:p.Pro220Ala
ENST00000407623.7:c.658C>G	ENSP00000384834.3:p.Pro220Ala
ENST00000470741.1:n.2861C>G
NM_000398.6:c.727C>G	NP_000389.1:p.Pro243Ala
NM_001129819.2:c.658C>G	NP_001123291.1:p.Pro220Ala
NM_001171660.1:c.826C>G	NP_001165131.1:p.Pro276Ala
NM_001171661.1:c.658C>G	NP_001165132.1:p.Pro220Ala
NM_007326.4:c.658C>G	NP_015565.1:p.Pro220Ala
NM_000398.7:c.727C>G MANE Select	NP_000389.1:p.Pro243Ala
NM_001171660.2:c.826C>G	NP_001165131.1:p.Pro276Ala