Canonical Allele Identifier: CA411796375

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019821C>T (hg19) ; chr22:g.42623815C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623815C>T , CM000684.2:g.42623815C>T	GRCh38
NC_000022.10:g.43019821C>T , CM000684.1:g.43019821C>T	GRCh37
NC_000022.9:g.41349765C>T	NCBI36
NG_012194.1:g.30585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.839G>A	ENSP00000354468.5:p.Trp280Ter
ENST00000402438.6:c.638G>A	ENSP00000385679.1:p.Trp213Ter
ENST00000407332.6:c.725G>A	ENSP00000384457.2:p.Trp242Ter
ENST00000407623.8:c.638G>A	ENSP00000384834.3:p.Trp213Ter
ENST00000617178.5:c.244G>A
ENST00000684963.1:n.2447G>A
ENST00000685184.1:n.299G>A
ENST00000686523.1:c.*656G>A	ENSP00000508940.1:n.*656G>A
ENST00000687183.1:n.983G>A
ENST00000687198.1:c.638G>A	ENSP00000508492.1:p.Trp213Ter
ENST00000688117.1:c.806G>A	ENSP00000509015.1:p.Trp269Ter
ENST00000688244.1:c.407G>A	ENSP00000510355.1:p.Trp136Ter
ENST00000689001.1:n.1329G>A
ENST00000689195.1:c.623G>A	ENSP00000509895.1:p.Trp208Ter
ENST00000689239.1:n.874G>A
ENST00000689795.1:n.968G>A
ENST00000690835.1:c.*86G>A	ENSP00000509038.1:n.*86G>A
ENST00000690993.1:n.1462G>A
ENST00000691295.1:c.*190G>A	ENSP00000508706.1:n.*190G>A
ENST00000691918.1:c.997G>A	ENSP00000509525.1:n.997G>A
ENST00000692152.1:c.638G>A	ENSP00000509317.1:p.Trp213Ter
ENST00000692344.1:n.1194G>A
ENST00000693363.1:c.749G>A	ENSP00000510411.1:p.Trp250Ter
ENST00000693367.1:c.707G>A	ENSP00000508815.1:p.Trp236Ter
ENST00000693639.1:c.700G>A	ENSP00000510223.1:n.700G>A
ENST00000693646.1:c.613G>A	ENSP00000508449.1:n.613G>A
ENST00000352397.10:c.707G>A MANE Select	ENSP00000338461.6:p.Trp236Ter
ENST00000352397.9:c.707G>A	ENSP00000338461.6:p.Trp236Ter
ENST00000361740.8:c.806G>A	ENSP00000354468.4:p.Trp269Ter
ENST00000402438.5:c.638G>A	ENSP00000385679.1:p.Trp213Ter
ENST00000407332.5:c.638G>A	ENSP00000384457.1:p.Trp213Ter
ENST00000407623.7:c.638G>A	ENSP00000384834.3:p.Trp213Ter
ENST00000470741.1:n.2841G>A
NM_000398.6:c.707G>A	NP_000389.1:p.Trp236Ter
NM_001129819.2:c.638G>A	NP_001123291.1:p.Trp213Ter
NM_001171660.1:c.806G>A	NP_001165131.1:p.Trp269Ter
NM_001171661.1:c.638G>A	NP_001165132.1:p.Trp213Ter
NM_007326.4:c.638G>A	NP_015565.1:p.Trp213Ter
NM_000398.7:c.707G>A MANE Select	NP_000389.1:p.Trp236Ter
NM_001171660.2:c.806G>A	NP_001165131.1:p.Trp269Ter