Canonical Allele Identifier: CA411797677

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43023339T>C (hg19) ; chr22:g.42627333T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627333T>C , CM000684.2:g.42627333T>C	GRCh38
NC_000022.10:g.43023339T>C , CM000684.1:g.43023339T>C	GRCh37
NC_000022.9:g.41353283T>C	NCBI36
NG_012194.1:g.27067A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.736A>G	ENSP00000354468.5:p.Thr246Ala
ENST00000402438.6:c.535A>G	ENSP00000385679.1:p.Thr179Ala
ENST00000407332.6:c.622A>G	ENSP00000384457.2:p.Thr208Ala
ENST00000407623.8:c.535A>G	ENSP00000384834.3:p.Thr179Ala
ENST00000617178.5:c.141A>G
ENST00000684963.1:n.2344A>G
ENST00000686523.1:c.*553A>G	ENSP00000508940.1:n.*553A>G
ENST00000687183.1:n.880A>G
ENST00000687198.1:c.535A>G	ENSP00000508492.1:p.Thr179Ala
ENST00000688117.1:c.703A>G	ENSP00000509015.1:p.Thr235Ala
ENST00000688244.1:c.334-3445A>G	ENSP00000510355.1:n.334-3445A>G
ENST00000689001.1:n.1226A>G
ENST00000689195.1:c.520A>G	ENSP00000509895.1:p.Thr174Ala
ENST00000689239.1:n.771A>G
ENST00000689795.1:n.766A>G
ENST00000690835.1:c.604A>G	ENSP00000509038.1:p.Thr202Ala
ENST00000690993.1:n.1359A>G
ENST00000691295.1:c.*87A>G	ENSP00000508706.1:n.*87A>G
ENST00000691918.1:c.583A>G	ENSP00000509525.1:p.Thr195Ala
ENST00000692152.1:c.535A>G	ENSP00000509317.1:p.Thr179Ala
ENST00000692344.1:n.1091A>G
ENST00000693363.1:c.646A>G	ENSP00000510411.1:p.Thr216Ala
ENST00000693367.1:c.604A>G	ENSP00000508815.1:p.Thr202Ala
ENST00000693639.1:c.597A>G	ENSP00000510223.1:n.597A>G
ENST00000693646.1:c.510A>G	ENSP00000508449.1:n.510A>G
ENST00000352397.10:c.604A>G MANE Select	ENSP00000338461.6:p.Thr202Ala
ENST00000352397.9:c.604A>G	ENSP00000338461.6:p.Thr202Ala
ENST00000361740.8:c.703A>G	ENSP00000354468.4:p.Thr235Ala
ENST00000402438.5:c.535A>G	ENSP00000385679.1:p.Thr179Ala
ENST00000407332.5:c.535A>G	ENSP00000384457.1:p.Thr179Ala
ENST00000407623.7:c.535A>G	ENSP00000384834.3:p.Thr179Ala
ENST00000470741.1:n.2738A>G
NM_000398.6:c.604A>G	NP_000389.1:p.Thr202Ala
NM_001129819.2:c.535A>G	NP_001123291.1:p.Thr179Ala
NM_001171660.1:c.703A>G	NP_001165131.1:p.Thr235Ala
NM_001171661.1:c.535A>G	NP_001165132.1:p.Thr179Ala
NM_007326.4:c.535A>G	NP_015565.1:p.Thr179Ala
NM_000398.7:c.604A>G MANE Select	NP_000389.1:p.Thr202Ala
NM_001171660.2:c.703A>G	NP_001165131.1:p.Thr235Ala