Canonical Allele Identifier: CA10269572
Community Standard Title: NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu)
Gene: CYB5R3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42619873G>A , CM000684.2:g.42619873G>A GRCh38
NC_000022.10:g.43015879G>A , CM000684.1:g.43015879G>A GRCh37
NC_000022.9:g.41345823G>A NCBI36
NG_012194.1:g.34527C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000398.7:c.806C>T MANE Select NP_000389.1:p.Pro269Leu
ENST00000352397.10:c.806C>T MANE Select ENSP00000338461.6:p.Pro269Leu
NM_000398.6:c.806C>T NP_000389.1:p.Pro269Leu
NM_001129819.2:c.737C>T NP_001123291.1:p.Pro246Leu
NM_001171660.1:c.905C>T NP_001165131.1:p.Pro302Leu
NM_001171660.2:c.905C>T NP_001165131.1:p.Pro302Leu
NM_001171661.1:c.737C>T NP_001165132.1:p.Pro246Leu
NM_007326.4:c.737C>T NP_015565.1:p.Pro246Leu
ENST00000352397.9:c.806C>T ENSP00000338461.6:p.Pro269Leu
ENST00000361740.8:c.905C>T ENSP00000354468.4:p.Pro302Leu
ENST00000361740.9:c.938C>T ENSP00000354468.5:p.Pro313Leu
ENST00000402438.5:c.737C>T ENSP00000385679.1:p.Pro246Leu
ENST00000402438.6:c.737C>T ENSP00000385679.1:p.Pro246Leu
ENST00000407332.5:c.737C>T ENSP00000384457.1:p.Pro246Leu
ENST00000407332.6:c.824C>T ENSP00000384457.2:p.Pro275Leu
ENST00000407623.7:c.737C>T ENSP00000384834.3:p.Pro246Leu
ENST00000407623.8:c.737C>T ENSP00000384834.3:p.Pro246Leu
ENST00000470741.1:n.2940C>T
ENST00000617178.5:c.343C>T
ENST00000684963.1:n.2546C>T
ENST00000685184.1:n.398C>T
ENST00000686523.1:c.*755C>T ENSP00000508940.1:n.*755C>T
ENST00000687183.1:n.1082C>T
ENST00000687198.1:c.737C>T ENSP00000508492.1:p.Pro246Leu
ENST00000688117.1:c.905C>T ENSP00000509015.1:p.Pro302Leu
ENST00000688244.1:c.506C>T ENSP00000510355.1:p.Pro169Leu
ENST00000689001.1:n.1428C>T
ENST00000689195.1:c.722C>T ENSP00000509895.1:p.Pro241Leu
ENST00000689239.1:n.973C>T
ENST00000689795.1:n.1067C>T
ENST00000690835.1:c.*185C>T ENSP00000509038.1:n.*185C>T
ENST00000690993.1:n.1561C>T
ENST00000691295.1:c.*289C>T ENSP00000508706.1:n.*289C>T
ENST00000692152.1:c.737C>T ENSP00000509317.1:p.Pro246Leu
ENST00000692344.1:n.1293C>T
ENST00000693363.1:c.848C>T ENSP00000510411.1:p.Pro283Leu
ENST00000693367.1:c.806C>T ENSP00000508815.1:p.Pro269Leu