Canonical Allele Identifier: CA10269583
Community Standard Title: NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)
Gene: CYB5R3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42619922C>T , CM000684.2:g.42619922C>T GRCh38
NC_000022.10:g.43015928C>T , CM000684.1:g.43015928C>T GRCh37
NC_000022.9:g.41345872C>T NCBI36
NG_012194.1:g.34478G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000398.7:c.757G>A MANE Select NP_000389.1:p.Val253Met
ENST00000352397.10:c.757G>A MANE Select ENSP00000338461.6:p.Val253Met
NM_000398.6:c.757G>A NP_000389.1:p.Val253Met
NM_001129819.2:c.688G>A NP_001123291.1:p.Val230Met
NM_001171660.1:c.856G>A NP_001165131.1:p.Val286Met
NM_001171660.2:c.856G>A NP_001165131.1:p.Val286Met
NM_001171661.1:c.688G>A NP_001165132.1:p.Val230Met
NM_007326.4:c.688G>A NP_015565.1:p.Val230Met
ENST00000352397.9:c.757G>A ENSP00000338461.6:p.Val253Met
ENST00000361740.8:c.856G>A ENSP00000354468.4:p.Val286Met
ENST00000361740.9:c.889G>A ENSP00000354468.5:p.Val297Met
ENST00000402438.5:c.688G>A ENSP00000385679.1:p.Val230Met
ENST00000402438.6:c.688G>A ENSP00000385679.1:p.Val230Met
ENST00000407332.5:c.688G>A ENSP00000384457.1:p.Val230Met
ENST00000407332.6:c.775G>A ENSP00000384457.2:p.Val259Met
ENST00000407623.7:c.688G>A ENSP00000384834.3:p.Val230Met
ENST00000407623.8:c.688G>A ENSP00000384834.3:p.Val230Met
ENST00000470741.1:n.2891G>A
ENST00000617178.5:c.294G>A
ENST00000684963.1:n.2497G>A
ENST00000685184.1:n.349G>A
ENST00000686523.1:c.*706G>A ENSP00000508940.1:n.*706G>A
ENST00000687183.1:n.1033G>A
ENST00000687198.1:c.688G>A ENSP00000508492.1:p.Val230Met
ENST00000688117.1:c.856G>A ENSP00000509015.1:p.Val286Met
ENST00000688244.1:c.457G>A ENSP00000510355.1:p.Val153Met
ENST00000689001.1:n.1379G>A
ENST00000689195.1:c.673G>A ENSP00000509895.1:p.Val225Met
ENST00000689239.1:n.924G>A
ENST00000689795.1:n.1018G>A
ENST00000690835.1:c.*136G>A ENSP00000509038.1:n.*136G>A
ENST00000690993.1:n.1512G>A
ENST00000691295.1:c.*240G>A ENSP00000508706.1:n.*240G>A
ENST00000692152.1:c.688G>A ENSP00000509317.1:p.Val230Met
ENST00000692344.1:n.1244G>A
ENST00000693363.1:c.799G>A ENSP00000510411.1:p.Val267Met
ENST00000693367.1:c.757G>A ENSP00000508815.1:p.Val253Met