Canonical Allele Identifier: CA411798904

Gene: CYB5R3

Linked Data

• ClinVar Variation Id: 1047255
• ClinVar RCV Id: RCV001351941
• dbSNP Id: rs1928395634
• MyVariant Identifiers: chr22:g.43024158C>T (hg19) ; chr22:g.42628152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628152C>T , CM000684.2:g.42628152C>T	GRCh38
NC_000022.10:g.43024158C>T , CM000684.1:g.43024158C>T	GRCh37
NC_000022.9:g.41354102C>T	NCBI36
NG_012194.1:g.26248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.463G>A	ENSP00000354468.5:p.Ala155Thr
ENST00000402438.6:c.394G>A	ENSP00000385679.1:p.Gly132Arg
ENST00000407332.6:c.481G>A	ENSP00000384457.2:p.Gly161Arg
ENST00000407623.8:c.394G>A	ENSP00000384834.3:p.Gly132Arg
ENST00000438270.2:c.394G>A	ENSP00000403439.2:p.Gly132Arg
ENST00000684963.1:n.1740G>A
ENST00000686129.1:c.394G>A
ENST00000686523.1:c.*412G>A	ENSP00000508940.1:n.*412G>A
ENST00000687183.1:n.524G>A
ENST00000687198.1:c.394G>A	ENSP00000508492.1:p.Gly132Arg
ENST00000688117.1:c.562G>A	ENSP00000509015.1:p.Gly188Arg
ENST00000688244.1:c.333+2730G>A	ENSP00000510355.1:n.333+2730G>A
ENST00000689001.1:n.870G>A
ENST00000689195.1:c.463G>A	ENSP00000509895.1:p.Gly155Ser
ENST00000689239.1:n.630G>A
ENST00000689795.1:n.625G>A
ENST00000690835.1:c.463G>A	ENSP00000509038.1:p.Gly155Arg
ENST00000690993.1:n.540G>A
ENST00000691295.1:c.334-464G>A	ENSP00000508706.1:n.334-464G>A
ENST00000691918.1:c.442G>A	ENSP00000509525.1:p.Gly148Arg
ENST00000692152.1:c.394G>A	ENSP00000509317.1:p.Gly132Arg
ENST00000692344.1:n.487G>A
ENST00000693157.1:c.383G>A	ENSP00000510610.1:n.383G>A
ENST00000693363.1:c.463G>A	ENSP00000510411.1:p.Gly155Arg
ENST00000693367.1:c.463G>A	ENSP00000508815.1:p.Gly155Arg
ENST00000693639.1:c.456G>A	ENSP00000510223.1:p.Lys152=
ENST00000693646.1:c.369G>A	ENSP00000508449.1:p.Lys123=
ENST00000352397.10:c.463G>A MANE Select	ENSP00000338461.6:p.Gly155Arg
ENST00000352397.9:c.463G>A	ENSP00000338461.6:p.Gly155Arg
ENST00000361740.8:c.562G>A	ENSP00000354468.4:p.Gly188Arg
ENST00000402438.5:c.394G>A	ENSP00000385679.1:p.Gly132Arg
ENST00000407332.5:c.394G>A	ENSP00000384457.1:p.Gly132Arg
ENST00000407623.7:c.394G>A	ENSP00000384834.3:p.Gly132Arg
ENST00000438270.1:c.394G>A	ENSP00000403439.1:p.Gly132Arg
ENST00000470741.1:n.2597G>A
NM_000398.6:c.463G>A	NP_000389.1:p.Gly155Arg
NM_001129819.2:c.394G>A	NP_001123291.1:p.Gly132Arg
NM_001171660.1:c.562G>A	NP_001165131.1:p.Gly188Arg
NM_001171661.1:c.394G>A	NP_001165132.1:p.Gly132Arg
NM_007326.4:c.394G>A	NP_015565.1:p.Gly132Arg
NM_000398.7:c.463G>A MANE Select	NP_000389.1:p.Gly155Arg
NM_001171660.2:c.562G>A	NP_001165131.1:p.Gly188Arg