Canonical Allele Identifier: CA411796350

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019816T>G (hg19) ; chr22:g.42623810T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623810T>G , CM000684.2:g.42623810T>G	GRCh38
NC_000022.10:g.43019816T>G , CM000684.1:g.43019816T>G	GRCh37
NC_000022.9:g.41349760T>G	NCBI36
NG_012194.1:g.30590A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.844A>C	ENSP00000354468.5:p.Thr282Pro
ENST00000402438.6:c.643A>C	ENSP00000385679.1:p.Thr215Pro
ENST00000407332.6:c.730A>C	ENSP00000384457.2:p.Thr244Pro
ENST00000407623.8:c.643A>C	ENSP00000384834.3:p.Thr215Pro
ENST00000617178.5:c.249A>C
ENST00000684963.1:n.2452A>C
ENST00000685184.1:n.304A>C
ENST00000686523.1:c.*661A>C	ENSP00000508940.1:n.*661A>C
ENST00000687183.1:n.988A>C
ENST00000687198.1:c.643A>C	ENSP00000508492.1:p.Thr215Pro
ENST00000688117.1:c.811A>C	ENSP00000509015.1:p.Thr271Pro
ENST00000688244.1:c.412A>C	ENSP00000510355.1:p.Thr138Pro
ENST00000689001.1:n.1334A>C
ENST00000689195.1:c.628A>C	ENSP00000509895.1:p.Thr210Pro
ENST00000689239.1:n.879A>C
ENST00000689795.1:n.973A>C
ENST00000690835.1:c.*91A>C	ENSP00000509038.1:n.*91A>C
ENST00000690993.1:n.1467A>C
ENST00000691295.1:c.*195A>C	ENSP00000508706.1:n.*195A>C
ENST00000691918.1:c.1002A>C	ENSP00000509525.1:n.1002A>C
ENST00000692152.1:c.643A>C	ENSP00000509317.1:p.Thr215Pro
ENST00000692344.1:n.1199A>C
ENST00000693363.1:c.754A>C	ENSP00000510411.1:p.Thr252Pro
ENST00000693367.1:c.712A>C	ENSP00000508815.1:p.Thr238Pro
ENST00000693639.1:c.705A>C	ENSP00000510223.1:n.705A>C
ENST00000693646.1:c.618A>C	ENSP00000508449.1:n.618A>C
ENST00000352397.10:c.712A>C MANE Select	ENSP00000338461.6:p.Thr238Pro
ENST00000352397.9:c.712A>C	ENSP00000338461.6:p.Thr238Pro
ENST00000361740.8:c.811A>C	ENSP00000354468.4:p.Thr271Pro
ENST00000402438.5:c.643A>C	ENSP00000385679.1:p.Thr215Pro
ENST00000407332.5:c.643A>C	ENSP00000384457.1:p.Thr215Pro
ENST00000407623.7:c.643A>C	ENSP00000384834.3:p.Thr215Pro
ENST00000470741.1:n.2846A>C
NM_000398.6:c.712A>C	NP_000389.1:p.Thr238Pro
NM_001129819.2:c.643A>C	NP_001123291.1:p.Thr215Pro
NM_001171660.1:c.811A>C	NP_001165131.1:p.Thr271Pro
NM_001171661.1:c.643A>C	NP_001165132.1:p.Thr215Pro
NM_007326.4:c.643A>C	NP_015565.1:p.Thr215Pro
NM_000398.7:c.712A>C MANE Select	NP_000389.1:p.Thr238Pro
NM_001171660.2:c.811A>C	NP_001165131.1:p.Thr271Pro