Canonical Allele Identifier: CA411796549

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019854A>G (hg19) ; chr22:g.42623848A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623848A>G , CM000684.2:g.42623848A>G	GRCh38
NC_000022.10:g.43019854A>G , CM000684.1:g.43019854A>G	GRCh37
NC_000022.9:g.41349798A>G	NCBI36
NG_012194.1:g.30552T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.806T>C	ENSP00000354468.5:p.Leu269Pro
ENST00000402438.6:c.605T>C	ENSP00000385679.1:p.Leu202Pro
ENST00000407332.6:c.692T>C	ENSP00000384457.2:p.Leu231Pro
ENST00000407623.8:c.605T>C	ENSP00000384834.3:p.Leu202Pro
ENST00000617178.5:c.211T>C
ENST00000684963.1:n.2414T>C
ENST00000685184.1:n.266T>C
ENST00000686523.1:c.*623T>C	ENSP00000508940.1:n.*623T>C
ENST00000687183.1:n.950T>C
ENST00000687198.1:c.605T>C	ENSP00000508492.1:p.Leu202Pro
ENST00000688117.1:c.773T>C	ENSP00000509015.1:p.Leu258Pro
ENST00000688244.1:c.374T>C	ENSP00000510355.1:p.Leu125Pro
ENST00000689001.1:n.1296T>C
ENST00000689195.1:c.590T>C	ENSP00000509895.1:p.Leu197Pro
ENST00000689239.1:n.841T>C
ENST00000689795.1:n.935T>C
ENST00000690835.1:c.*53T>C	ENSP00000509038.1:n.*53T>C
ENST00000690993.1:n.1429T>C
ENST00000691295.1:c.*157T>C	ENSP00000508706.1:n.*157T>C
ENST00000691918.1:c.964T>C	ENSP00000509525.1:n.964T>C
ENST00000692152.1:c.605T>C	ENSP00000509317.1:p.Leu202Pro
ENST00000692344.1:n.1161T>C
ENST00000693363.1:c.716T>C	ENSP00000510411.1:p.Leu239Pro
ENST00000693367.1:c.674T>C	ENSP00000508815.1:p.Leu225Pro
ENST00000693639.1:c.667T>C	ENSP00000510223.1:n.667T>C
ENST00000693646.1:c.580T>C	ENSP00000508449.1:n.580T>C
ENST00000352397.10:c.674T>C MANE Select	ENSP00000338461.6:p.Leu225Pro
ENST00000352397.9:c.674T>C	ENSP00000338461.6:p.Leu225Pro
ENST00000361740.8:c.773T>C	ENSP00000354468.4:p.Leu258Pro
ENST00000402438.5:c.605T>C	ENSP00000385679.1:p.Leu202Pro
ENST00000407332.5:c.605T>C	ENSP00000384457.1:p.Leu202Pro
ENST00000407623.7:c.605T>C	ENSP00000384834.3:p.Leu202Pro
ENST00000470741.1:n.2808T>C
NM_000398.6:c.674T>C	NP_000389.1:p.Leu225Pro
NM_001129819.2:c.605T>C	NP_001123291.1:p.Leu202Pro
NM_001171660.1:c.773T>C	NP_001165131.1:p.Leu258Pro
NM_001171661.1:c.605T>C	NP_001165132.1:p.Leu202Pro
NM_007326.4:c.605T>C	NP_015565.1:p.Leu202Pro
NM_000398.7:c.674T>C MANE Select	NP_000389.1:p.Leu225Pro
NM_001171660.2:c.773T>C	NP_001165131.1:p.Leu258Pro