Canonical Allele Identifier: CA411797651

Gene: CYB5R3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627326C>G , CM000684.2:g.42627326C>G	GRCh38
NC_000022.10:g.43023332C>G , CM000684.1:g.43023332C>G	GRCh37
NC_000022.9:g.41353276C>G	NCBI36
NG_012194.1:g.27074G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000398.7:c.611G>C MANE Select	NP_000389.1:p.Cys204Ser
ENST00000352397.10:c.611G>C MANE Select	ENSP00000338461.6:p.Cys204Ser
NM_000398.6:c.611G>C	NP_000389.1:p.Cys204Ser
NM_001129819.2:c.542G>C	NP_001123291.1:p.Cys181Ser
NM_001171660.1:c.710G>C	NP_001165131.1:p.Cys237Ser
NM_001171660.2:c.710G>C	NP_001165131.1:p.Cys237Ser
NM_001171661.1:c.542G>C	NP_001165132.1:p.Cys181Ser
NM_007326.4:c.542G>C	NP_015565.1:p.Cys181Ser
ENST00000352397.9:c.611G>C	ENSP00000338461.6:p.Cys204Ser
ENST00000361740.8:c.710G>C	ENSP00000354468.4:p.Cys237Ser
ENST00000361740.9:c.743G>C	ENSP00000354468.5:p.Cys248Ser
ENST00000402438.5:c.542G>C	ENSP00000385679.1:p.Cys181Ser
ENST00000402438.6:c.542G>C	ENSP00000385679.1:p.Cys181Ser
ENST00000407332.5:c.542G>C	ENSP00000384457.1:p.Cys181Ser
ENST00000407332.6:c.629G>C	ENSP00000384457.2:p.Cys210Ser
ENST00000407623.7:c.542G>C	ENSP00000384834.3:p.Cys181Ser
ENST00000407623.8:c.542G>C	ENSP00000384834.3:p.Cys181Ser
ENST00000470741.1:n.2745G>C
ENST00000617178.5:c.148G>C
ENST00000684963.1:n.2351G>C
ENST00000686523.1:c.*560G>C	ENSP00000508940.1:n.*560G>C
ENST00000687183.1:n.887G>C
ENST00000687198.1:c.542G>C	ENSP00000508492.1:p.Cys181Ser
ENST00000688117.1:c.710G>C	ENSP00000509015.1:p.Cys237Ser
ENST00000688244.1:c.334-3438G>C	ENSP00000510355.1:n.334-3438G>C
ENST00000689001.1:n.1233G>C
ENST00000689195.1:c.527G>C	ENSP00000509895.1:p.Cys176Ser
ENST00000689239.1:n.778G>C
ENST00000689795.1:n.773G>C
ENST00000690835.1:c.611G>C	ENSP00000509038.1:p.Cys204Ser
ENST00000690993.1:n.1366G>C
ENST00000691295.1:c.*94G>C	ENSP00000508706.1:n.*94G>C
ENST00000691918.1:c.590G>C	ENSP00000509525.1:p.Cys197Ser
ENST00000692152.1:c.542G>C	ENSP00000509317.1:p.Cys181Ser
ENST00000692344.1:n.1098G>C
ENST00000693363.1:c.653G>C	ENSP00000510411.1:p.Cys218Ser
ENST00000693367.1:c.611G>C	ENSP00000508815.1:p.Cys204Ser
ENST00000693639.1:c.604G>C	ENSP00000510223.1:n.604G>C
ENST00000693646.1:c.517G>C	ENSP00000508449.1:n.517G>C