Canonical Allele Identifier: CA10269830

Gene: CYB5R3

Linked Data

• dbSNP Id: rs749625957
• ExAC: 22:43026913 T / G
• gnomAD v2: 22-43026913-T-G
• gnomAD v4: 22-42630907-T-G
• MyVariant Identifiers: chr22:g.43026913T>G (hg19) ; chr22:g.42630907T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630907T>G , CM000684.2:g.42630907T>G	GRCh38
NC_000022.10:g.43026913T>G , CM000684.1:g.43026913T>G	GRCh37
NC_000022.9:g.41356857T>G	NCBI36
NG_012194.1:g.23493A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.308A>C	ENSP00000354468.5:p.Lys103Thr
ENST00000402438.6:c.239A>C	ENSP00000385679.1:p.Lys80Thr
ENST00000407332.6:c.326A>C	ENSP00000384457.2:p.Lys109Thr
ENST00000407623.8:c.239A>C	ENSP00000384834.3:p.Lys80Thr
ENST00000438270.2:c.239A>C	ENSP00000403439.2:p.Lys80Thr
ENST00000466276.2:n.375A>C
ENST00000686129.1:c.239A>C	ENSP00000508623.1:p.Lys80Thr
ENST00000686523.1:c.*257A>C	ENSP00000508940.1:n.*257A>C
ENST00000687183.1:n.369A>C
ENST00000687198.1:c.239A>C	ENSP00000508492.1:p.Lys80Thr
ENST00000688117.1:c.407A>C	ENSP00000509015.1:p.Lys136Thr
ENST00000688244.1:c.308A>C	ENSP00000510355.1:p.Lys103Thr
ENST00000689001.1:n.715A>C
ENST00000689195.1:c.308A>C	ENSP00000509895.1:p.Lys103Thr
ENST00000689239.1:n.475A>C
ENST00000689795.1:n.470A>C
ENST00000690835.1:c.308A>C	ENSP00000509038.1:p.Lys103Thr
ENST00000690993.1:n.385A>C
ENST00000691295.1:c.308A>C	ENSP00000508706.1:p.Lys103Thr
ENST00000691918.1:c.287A>C	ENSP00000509525.1:p.Lys96Thr
ENST00000692152.1:c.239A>C	ENSP00000509317.1:p.Lys80Thr
ENST00000692344.1:n.332A>C
ENST00000693157.1:c.228A>C	ENSP00000510610.1:n.228A>C
ENST00000693363.1:c.308A>C	ENSP00000510411.1:p.Lys103Thr
ENST00000693367.1:c.308A>C	ENSP00000508815.1:p.Lys103Thr
ENST00000693639.1:c.301A>C	ENSP00000510223.1:p.Arg101=
ENST00000693646.1:c.214A>C	ENSP00000508449.1:p.Arg72=
ENST00000693716.1:n.536A>C
ENST00000352397.10:c.308A>C MANE Select	ENSP00000338461.6:p.Lys103Thr
ENST00000352397.9:c.308A>C	ENSP00000338461.6:p.Lys103Thr
ENST00000361740.8:c.407A>C	ENSP00000354468.4:p.Lys136Thr
ENST00000402438.5:c.239A>C	ENSP00000385679.1:p.Lys80Thr
ENST00000407332.5:c.239A>C	ENSP00000384457.1:p.Lys80Thr
ENST00000407623.7:c.239A>C	ENSP00000384834.3:p.Lys80Thr
ENST00000438270.1:c.239A>C	ENSP00000403439.1:p.Lys80Thr
ENST00000470741.1:n.2442A>C
NM_000398.6:c.308A>C	NP_000389.1:p.Lys103Thr
NM_001129819.2:c.239A>C	NP_001123291.1:p.Lys80Thr
NM_001171660.1:c.407A>C	NP_001165131.1:p.Lys136Thr
NM_001171661.1:c.239A>C	NP_001165132.1:p.Lys80Thr
NM_007326.4:c.239A>C	NP_015565.1:p.Lys80Thr
NM_000398.7:c.308A>C MANE Select	NP_000389.1:p.Lys103Thr
NM_001171660.2:c.407A>C	NP_001165131.1:p.Lys136Thr