Canonical Allele Identifier: CA411796447

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019837C>G (hg19) ; chr22:g.42623831C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623831C>G , CM000684.2:g.42623831C>G	GRCh38
NC_000022.10:g.43019837C>G , CM000684.1:g.43019837C>G	GRCh37
NC_000022.9:g.41349781C>G	NCBI36
NG_012194.1:g.30569G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.823G>C	ENSP00000354468.5:p.Ala275Pro
ENST00000402438.6:c.622G>C	ENSP00000385679.1:p.Ala208Pro
ENST00000407332.6:c.709G>C	ENSP00000384457.2:p.Ala237Pro
ENST00000407623.8:c.622G>C	ENSP00000384834.3:p.Ala208Pro
ENST00000617178.5:c.228G>C
ENST00000684963.1:n.2431G>C
ENST00000685184.1:n.283G>C
ENST00000686523.1:c.*640G>C	ENSP00000508940.1:n.*640G>C
ENST00000687183.1:n.967G>C
ENST00000687198.1:c.622G>C	ENSP00000508492.1:p.Ala208Pro
ENST00000688117.1:c.790G>C	ENSP00000509015.1:p.Ala264Pro
ENST00000688244.1:c.391G>C	ENSP00000510355.1:p.Ala131Pro
ENST00000689001.1:n.1313G>C
ENST00000689195.1:c.607G>C	ENSP00000509895.1:p.Ala203Pro
ENST00000689239.1:n.858G>C
ENST00000689795.1:n.952G>C
ENST00000690835.1:c.*70G>C	ENSP00000509038.1:n.*70G>C
ENST00000690993.1:n.1446G>C
ENST00000691295.1:c.*174G>C	ENSP00000508706.1:n.*174G>C
ENST00000691918.1:c.981G>C	ENSP00000509525.1:n.981G>C
ENST00000692152.1:c.622G>C	ENSP00000509317.1:p.Ala208Pro
ENST00000692344.1:n.1178G>C
ENST00000693363.1:c.733G>C	ENSP00000510411.1:p.Ala245Pro
ENST00000693367.1:c.691G>C	ENSP00000508815.1:p.Ala231Pro
ENST00000693639.1:c.684G>C	ENSP00000510223.1:n.684G>C
ENST00000693646.1:c.597G>C	ENSP00000508449.1:n.597G>C
ENST00000352397.10:c.691G>C MANE Select	ENSP00000338461.6:p.Ala231Pro
ENST00000352397.9:c.691G>C	ENSP00000338461.6:p.Ala231Pro
ENST00000361740.8:c.790G>C	ENSP00000354468.4:p.Ala264Pro
ENST00000402438.5:c.622G>C	ENSP00000385679.1:p.Ala208Pro
ENST00000407332.5:c.622G>C	ENSP00000384457.1:p.Ala208Pro
ENST00000407623.7:c.622G>C	ENSP00000384834.3:p.Ala208Pro
ENST00000470741.1:n.2825G>C
NM_000398.6:c.691G>C	NP_000389.1:p.Ala231Pro
NM_001129819.2:c.622G>C	NP_001123291.1:p.Ala208Pro
NM_001171660.1:c.790G>C	NP_001165131.1:p.Ala264Pro
NM_001171661.1:c.622G>C	NP_001165132.1:p.Ala208Pro
NM_007326.4:c.622G>C	NP_015565.1:p.Ala208Pro
NM_000398.7:c.691G>C MANE Select	NP_000389.1:p.Ala231Pro
NM_001171660.2:c.790G>C	NP_001165131.1:p.Ala264Pro