Canonical Allele Identifier: CA514812943

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019853G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623847G>C , CM000684.2:g.42623847G>C	GRCh38
NC_000022.10:g.43019853G>C , CM000684.1:g.43019853G>C	GRCh37
NC_000022.9:g.41349797G>C	NCBI36
NG_012194.1:g.30553C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.807C>G	ENSP00000354468.5:p.Leu269=
ENST00000402438.6:c.606C>G	ENSP00000385679.1:p.Leu202=
ENST00000407332.6:c.693C>G	ENSP00000384457.2:p.Leu231=
ENST00000407623.8:c.606C>G	ENSP00000384834.3:p.Leu202=
ENST00000617178.5:c.212C>G
ENST00000684963.1:n.2415C>G
ENST00000685184.1:n.267C>G
ENST00000686523.1:c.*624C>G	ENSP00000508940.1:n.*624C>G
ENST00000687183.1:n.951C>G
ENST00000687198.1:c.606C>G	ENSP00000508492.1:p.Leu202=
ENST00000688117.1:c.774C>G	ENSP00000509015.1:p.Leu258=
ENST00000688244.1:c.375C>G	ENSP00000510355.1:p.Leu125=
ENST00000689001.1:n.1297C>G
ENST00000689195.1:c.591C>G	ENSP00000509895.1:p.Leu197=
ENST00000689239.1:n.842C>G
ENST00000689795.1:n.936C>G
ENST00000690835.1:c.*54C>G	ENSP00000509038.1:n.*54C>G
ENST00000690993.1:n.1430C>G
ENST00000691295.1:c.*158C>G	ENSP00000508706.1:n.*158C>G
ENST00000691918.1:c.965C>G	ENSP00000509525.1:n.965C>G
ENST00000692152.1:c.606C>G	ENSP00000509317.1:p.Leu202=
ENST00000692344.1:n.1162C>G
ENST00000693363.1:c.717C>G	ENSP00000510411.1:p.Leu239=
ENST00000693367.1:c.675C>G	ENSP00000508815.1:p.Leu225=
ENST00000693639.1:c.668C>G	ENSP00000510223.1:n.668C>G
ENST00000693646.1:c.581C>G	ENSP00000508449.1:n.581C>G
ENST00000352397.10:c.675C>G MANE Select	ENSP00000338461.6:p.Leu225=
ENST00000352397.9:c.675C>G	ENSP00000338461.6:p.Leu225=
ENST00000361740.8:c.774C>G	ENSP00000354468.4:p.Leu258=
ENST00000402438.5:c.606C>G	ENSP00000385679.1:p.Leu202=
ENST00000407332.5:c.606C>G	ENSP00000384457.1:p.Leu202=
ENST00000407623.7:c.606C>G	ENSP00000384834.3:p.Leu202=
ENST00000470741.1:n.2809C>G
NM_000398.6:c.675C>G	NP_000389.1:p.Leu225=
NM_001129819.2:c.606C>G	NP_001123291.1:p.Leu202=
NM_001171660.1:c.774C>G	NP_001165131.1:p.Leu258=
NM_001171661.1:c.606C>G	NP_001165132.1:p.Leu202=
NM_007326.4:c.606C>G	NP_015565.1:p.Leu202=
NM_000398.7:c.675C>G MANE Select	NP_000389.1:p.Leu225=
NM_001171660.2:c.774C>G	NP_001165131.1:p.Leu258=