Canonical Allele Identifier: CA411796741

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019887T>G (hg19) ; chr22:g.42623881T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623881T>G , CM000684.2:g.42623881T>G	GRCh38
NC_000022.10:g.43019887T>G , CM000684.1:g.43019887T>G	GRCh37
NC_000022.9:g.41349831T>G	NCBI36
NG_012194.1:g.30519A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.773A>C	ENSP00000354468.5:p.Lys258Thr
ENST00000402438.6:c.572A>C	ENSP00000385679.1:p.Lys191Thr
ENST00000407332.6:c.659A>C	ENSP00000384457.2:p.Lys220Thr
ENST00000407623.8:c.572A>C	ENSP00000384834.3:p.Lys191Thr
ENST00000617178.5:c.178A>C
ENST00000684963.1:n.2381A>C
ENST00000685184.1:n.233A>C
ENST00000686523.1:c.*590A>C	ENSP00000508940.1:n.*590A>C
ENST00000687183.1:n.917A>C
ENST00000687198.1:c.572A>C	ENSP00000508492.1:p.Lys191Thr
ENST00000688117.1:c.740A>C	ENSP00000509015.1:p.Lys247Thr
ENST00000688244.1:c.341A>C	ENSP00000510355.1:p.Lys114Thr
ENST00000689001.1:n.1263A>C
ENST00000689195.1:c.557A>C	ENSP00000509895.1:p.Lys186Thr
ENST00000689239.1:n.808A>C
ENST00000689795.1:n.902A>C
ENST00000690835.1:c.*20A>C	ENSP00000509038.1:n.*20A>C
ENST00000690993.1:n.1396A>C
ENST00000691295.1:c.*124A>C	ENSP00000508706.1:n.*124A>C
ENST00000691918.1:c.931A>C	ENSP00000509525.1:n.931A>C
ENST00000692152.1:c.572A>C	ENSP00000509317.1:p.Lys191Thr
ENST00000692344.1:n.1128A>C
ENST00000693363.1:c.683A>C	ENSP00000510411.1:p.Lys228Thr
ENST00000693367.1:c.641A>C	ENSP00000508815.1:p.Lys214Thr
ENST00000693639.1:c.634A>C	ENSP00000510223.1:n.634A>C
ENST00000693646.1:c.547A>C	ENSP00000508449.1:n.547A>C
ENST00000352397.10:c.641A>C MANE Select	ENSP00000338461.6:p.Lys214Thr
ENST00000352397.9:c.641A>C	ENSP00000338461.6:p.Lys214Thr
ENST00000361740.8:c.740A>C	ENSP00000354468.4:p.Lys247Thr
ENST00000402438.5:c.572A>C	ENSP00000385679.1:p.Lys191Thr
ENST00000407332.5:c.572A>C	ENSP00000384457.1:p.Lys191Thr
ENST00000407623.7:c.572A>C	ENSP00000384834.3:p.Lys191Thr
ENST00000470741.1:n.2775A>C
NM_000398.6:c.641A>C	NP_000389.1:p.Lys214Thr
NM_001129819.2:c.572A>C	NP_001123291.1:p.Lys191Thr
NM_001171660.1:c.740A>C	NP_001165131.1:p.Lys247Thr
NM_001171661.1:c.572A>C	NP_001165132.1:p.Lys191Thr
NM_007326.4:c.572A>C	NP_015565.1:p.Lys191Thr
NM_000398.7:c.641A>C MANE Select	NP_000389.1:p.Lys214Thr
NM_001171660.2:c.740A>C	NP_001165131.1:p.Lys247Thr