Canonical Allele Identifier: CA10269644

Gene: CYB5R3

Linked Data

• dbSNP Id: rs759899922
• ExAC: 22:43023351 G / C
• gnomAD v2: 22-43023351-G-C
• MyVariant Identifiers: chr22:g.43023351G>C (hg19) ; chr22:g.42627345G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627345G>C , CM000684.2:g.42627345G>C	GRCh38
NC_000022.10:g.43023351G>C , CM000684.1:g.43023351G>C	GRCh37
NC_000022.9:g.41353295G>C	NCBI36
NG_012194.1:g.27055C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.724C>G	ENSP00000354468.5:p.Pro242Ala
ENST00000402438.6:c.523C>G	ENSP00000385679.1:p.Pro175Ala
ENST00000407332.6:c.610C>G	ENSP00000384457.2:p.Pro204Ala
ENST00000407623.8:c.523C>G	ENSP00000384834.3:p.Pro175Ala
ENST00000617178.5:c.129C>G
ENST00000684963.1:n.2332C>G
ENST00000686523.1:c.*541C>G	ENSP00000508940.1:n.*541C>G
ENST00000687183.1:n.868C>G
ENST00000687198.1:c.523C>G	ENSP00000508492.1:p.Pro175Ala
ENST00000688117.1:c.691C>G	ENSP00000509015.1:p.Pro231Ala
ENST00000688244.1:c.334-3457C>G	ENSP00000510355.1:n.334-3457C>G
ENST00000689001.1:n.1214C>G
ENST00000689195.1:c.508C>G	ENSP00000509895.1:p.Pro170Ala
ENST00000689239.1:n.759C>G
ENST00000689795.1:n.754C>G
ENST00000690835.1:c.592C>G	ENSP00000509038.1:p.Pro198Ala
ENST00000690993.1:n.1347C>G
ENST00000691295.1:c.*75C>G	ENSP00000508706.1:n.*75C>G
ENST00000691918.1:c.571C>G	ENSP00000509525.1:p.Pro191Ala
ENST00000692152.1:c.523C>G	ENSP00000509317.1:p.Pro175Ala
ENST00000692344.1:n.1079C>G
ENST00000693363.1:c.634C>G	ENSP00000510411.1:p.Pro212Ala
ENST00000693367.1:c.592C>G	ENSP00000508815.1:p.Pro198Ala
ENST00000693639.1:c.585C>G	ENSP00000510223.1:n.585C>G
ENST00000693646.1:c.498C>G	ENSP00000508449.1:n.498C>G
ENST00000352397.10:c.592C>G MANE Select	ENSP00000338461.6:p.Pro198Ala
ENST00000352397.9:c.592C>G	ENSP00000338461.6:p.Pro198Ala
ENST00000361740.8:c.691C>G	ENSP00000354468.4:p.Pro231Ala
ENST00000402438.5:c.523C>G	ENSP00000385679.1:p.Pro175Ala
ENST00000407332.5:c.523C>G	ENSP00000384457.1:p.Pro175Ala
ENST00000407623.7:c.523C>G	ENSP00000384834.3:p.Pro175Ala
ENST00000470741.1:n.2726C>G
NM_000398.6:c.592C>G	NP_000389.1:p.Pro198Ala
NM_001129819.2:c.523C>G	NP_001123291.1:p.Pro175Ala
NM_001171660.1:c.691C>G	NP_001165131.1:p.Pro231Ala
NM_001171661.1:c.523C>G	NP_001165132.1:p.Pro175Ala
NM_007326.4:c.523C>G	NP_015565.1:p.Pro175Ala
NM_000398.7:c.592C>G MANE Select	NP_000389.1:p.Pro198Ala
NM_001171660.2:c.691C>G	NP_001165131.1:p.Pro231Ala