Canonical Allele Identifier: CA411800362
Gene: CYB5R3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42630906C>A , CM000684.2:g.42630906C>A GRCh38
NC_000022.10:g.43026912C>A , CM000684.1:g.43026912C>A GRCh37
NC_000022.9:g.41356856C>A NCBI36
NG_012194.1:g.23494G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361740.9:c.309G>T ENSP00000354468.5:p.Lys103Asn
ENST00000402438.6:c.240G>T ENSP00000385679.1:p.Lys80Asn
ENST00000407332.6:c.327G>T ENSP00000384457.2:p.Lys109Asn
ENST00000407623.8:c.240G>T ENSP00000384834.3:p.Lys80Asn
ENST00000438270.2:c.240G>T ENSP00000403439.2:p.Lys80Asn
ENST00000466276.2:n.376G>T
ENST00000686129.1:c.240G>T ENSP00000508623.1:p.Lys80Asn
ENST00000686523.1:c.*258G>T ENSP00000508940.1:n.*258G>T
ENST00000687183.1:n.370G>T
ENST00000687198.1:c.240G>T ENSP00000508492.1:p.Lys80Asn
ENST00000688117.1:c.408G>T ENSP00000509015.1:p.Lys136Asn
ENST00000688244.1:c.309G>T ENSP00000510355.1:p.Lys103Asn
ENST00000689001.1:n.716G>T
ENST00000689195.1:c.309G>T ENSP00000509895.1:p.Lys103Asn
ENST00000689239.1:n.476G>T
ENST00000689795.1:n.471G>T
ENST00000690835.1:c.309G>T ENSP00000509038.1:p.Lys103Asn
ENST00000690993.1:n.386G>T
ENST00000691295.1:c.309G>T ENSP00000508706.1:p.Lys103Asn
ENST00000691918.1:c.288G>T ENSP00000509525.1:p.Lys96Asn
ENST00000692152.1:c.240G>T ENSP00000509317.1:p.Lys80Asn
ENST00000692344.1:n.333G>T
ENST00000693157.1:c.229G>T ENSP00000510610.1:n.229G>T
ENST00000693363.1:c.309G>T ENSP00000510411.1:p.Lys103Asn
ENST00000693367.1:c.309G>T ENSP00000508815.1:p.Lys103Asn
ENST00000693639.1:c.302G>T ENSP00000510223.1:p.Arg101Met
ENST00000693646.1:c.215G>T ENSP00000508449.1:p.Arg72Met
ENST00000693716.1:n.537G>T
ENST00000352397.10:c.309G>T MANE Select ENSP00000338461.6:p.Lys103Asn
ENST00000352397.9:c.309G>T ENSP00000338461.6:p.Lys103Asn
ENST00000361740.8:c.408G>T ENSP00000354468.4:p.Lys136Asn
ENST00000402438.5:c.240G>T ENSP00000385679.1:p.Lys80Asn
ENST00000407332.5:c.240G>T ENSP00000384457.1:p.Lys80Asn
ENST00000407623.7:c.240G>T ENSP00000384834.3:p.Lys80Asn
ENST00000438270.1:c.240G>T ENSP00000403439.1:p.Lys80Asn
ENST00000470741.1:n.2443G>T
NM_000398.6:c.309G>T NP_000389.1:p.Lys103Asn
NM_001129819.2:c.240G>T NP_001123291.1:p.Lys80Asn
NM_001171660.1:c.408G>T NP_001165131.1:p.Lys136Asn
NM_001171661.1:c.240G>T NP_001165132.1:p.Lys80Asn
NM_007326.4:c.240G>T NP_015565.1:p.Lys80Asn
NM_000398.7:c.309G>T MANE Select NP_000389.1:p.Lys103Asn
NM_001171660.2:c.408G>T NP_001165131.1:p.Lys136Asn