Canonical Allele Identifier: CA514814134

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43023337A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627331A>C , CM000684.2:g.42627331A>C	GRCh38
NC_000022.10:g.43023337A>C , CM000684.1:g.43023337A>C	GRCh37
NC_000022.9:g.41353281A>C	NCBI36
NG_012194.1:g.27069T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.738T>G	ENSP00000354468.5:p.Thr246=
ENST00000402438.6:c.537T>G	ENSP00000385679.1:p.Thr179=
ENST00000407332.6:c.624T>G	ENSP00000384457.2:p.Thr208=
ENST00000407623.8:c.537T>G	ENSP00000384834.3:p.Thr179=
ENST00000617178.5:c.143T>G
ENST00000684963.1:n.2346T>G
ENST00000686523.1:c.*555T>G	ENSP00000508940.1:n.*555T>G
ENST00000687183.1:n.882T>G
ENST00000687198.1:c.537T>G	ENSP00000508492.1:p.Thr179=
ENST00000688117.1:c.705T>G	ENSP00000509015.1:p.Thr235=
ENST00000688244.1:c.334-3443T>G	ENSP00000510355.1:n.334-3443T>G
ENST00000689001.1:n.1228T>G
ENST00000689195.1:c.522T>G	ENSP00000509895.1:p.Thr174=
ENST00000689239.1:n.773T>G
ENST00000689795.1:n.768T>G
ENST00000690835.1:c.606T>G	ENSP00000509038.1:p.Thr202=
ENST00000690993.1:n.1361T>G
ENST00000691295.1:c.*89T>G	ENSP00000508706.1:n.*89T>G
ENST00000691918.1:c.585T>G	ENSP00000509525.1:p.Thr195=
ENST00000692152.1:c.537T>G	ENSP00000509317.1:p.Thr179=
ENST00000692344.1:n.1093T>G
ENST00000693363.1:c.648T>G	ENSP00000510411.1:p.Thr216=
ENST00000693367.1:c.606T>G	ENSP00000508815.1:p.Thr202=
ENST00000693639.1:c.599T>G	ENSP00000510223.1:n.599T>G
ENST00000693646.1:c.512T>G	ENSP00000508449.1:n.512T>G
ENST00000352397.10:c.606T>G MANE Select	ENSP00000338461.6:p.Thr202=
ENST00000352397.9:c.606T>G	ENSP00000338461.6:p.Thr202=
ENST00000361740.8:c.705T>G	ENSP00000354468.4:p.Thr235=
ENST00000402438.5:c.537T>G	ENSP00000385679.1:p.Thr179=
ENST00000407332.5:c.537T>G	ENSP00000384457.1:p.Thr179=
ENST00000407623.7:c.537T>G	ENSP00000384834.3:p.Thr179=
ENST00000470741.1:n.2740T>G
NM_000398.6:c.606T>G	NP_000389.1:p.Thr202=
NM_001129819.2:c.537T>G	NP_001123291.1:p.Thr179=
NM_001171660.1:c.705T>G	NP_001165131.1:p.Thr235=
NM_001171661.1:c.537T>G	NP_001165132.1:p.Thr179=
NM_007326.4:c.537T>G	NP_015565.1:p.Thr179=
NM_000398.7:c.606T>G MANE Select	NP_000389.1:p.Thr202=
NM_001171660.2:c.705T>G	NP_001165131.1:p.Thr235=