Canonical Allele Identifier: CA411797659

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43023335A>C (hg19) ; chr22:g.42627329A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627329A>C , CM000684.2:g.42627329A>C	GRCh38
NC_000022.10:g.43023335A>C , CM000684.1:g.43023335A>C	GRCh37
NC_000022.9:g.41353279A>C	NCBI36
NG_012194.1:g.27071T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.740T>G	ENSP00000354468.5:p.Val247Gly
ENST00000402438.6:c.539T>G	ENSP00000385679.1:p.Val180Gly
ENST00000407332.6:c.626T>G	ENSP00000384457.2:p.Val209Gly
ENST00000407623.8:c.539T>G	ENSP00000384834.3:p.Val180Gly
ENST00000617178.5:c.145T>G
ENST00000684963.1:n.2348T>G
ENST00000686523.1:c.*557T>G	ENSP00000508940.1:n.*557T>G
ENST00000687183.1:n.884T>G
ENST00000687198.1:c.539T>G	ENSP00000508492.1:p.Val180Gly
ENST00000688117.1:c.707T>G	ENSP00000509015.1:p.Val236Gly
ENST00000688244.1:c.334-3441T>G	ENSP00000510355.1:n.334-3441T>G
ENST00000689001.1:n.1230T>G
ENST00000689195.1:c.524T>G	ENSP00000509895.1:p.Val175Gly
ENST00000689239.1:n.775T>G
ENST00000689795.1:n.770T>G
ENST00000690835.1:c.608T>G	ENSP00000509038.1:p.Val203Gly
ENST00000690993.1:n.1363T>G
ENST00000691295.1:c.*91T>G	ENSP00000508706.1:n.*91T>G
ENST00000691918.1:c.587T>G	ENSP00000509525.1:p.Val196Gly
ENST00000692152.1:c.539T>G	ENSP00000509317.1:p.Val180Gly
ENST00000692344.1:n.1095T>G
ENST00000693363.1:c.650T>G	ENSP00000510411.1:p.Val217Gly
ENST00000693367.1:c.608T>G	ENSP00000508815.1:p.Val203Gly
ENST00000693639.1:c.601T>G	ENSP00000510223.1:n.601T>G
ENST00000693646.1:c.514T>G	ENSP00000508449.1:n.514T>G
ENST00000352397.10:c.608T>G MANE Select	ENSP00000338461.6:p.Val203Gly
ENST00000352397.9:c.608T>G	ENSP00000338461.6:p.Val203Gly
ENST00000361740.8:c.707T>G	ENSP00000354468.4:p.Val236Gly
ENST00000402438.5:c.539T>G	ENSP00000385679.1:p.Val180Gly
ENST00000407332.5:c.539T>G	ENSP00000384457.1:p.Val180Gly
ENST00000407623.7:c.539T>G	ENSP00000384834.3:p.Val180Gly
ENST00000470741.1:n.2742T>G
NM_000398.6:c.608T>G	NP_000389.1:p.Val203Gly
NM_001129819.2:c.539T>G	NP_001123291.1:p.Val180Gly
NM_001171660.1:c.707T>G	NP_001165131.1:p.Val236Gly
NM_001171661.1:c.539T>G	NP_001165132.1:p.Val180Gly
NM_007326.4:c.539T>G	NP_015565.1:p.Val180Gly
NM_000398.7:c.608T>G MANE Select	NP_000389.1:p.Val203Gly
NM_001171660.2:c.707T>G	NP_001165131.1:p.Val236Gly