Canonical Allele Identifier: CA411798548

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1601933990
• MyVariant Identifiers: chr22:g.43023688A>G (hg19) ; chr22:g.42627682A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627682A>G , CM000684.2:g.42627682A>G	GRCh38
NC_000022.10:g.43023688A>G , CM000684.1:g.43023688A>G	GRCh37
NC_000022.9:g.41353632A>G	NCBI36
NG_012194.1:g.26718T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.602T>C	ENSP00000354468.5:p.Phe201Ser
ENST00000402438.6:c.401T>C	ENSP00000385679.1:p.Phe134Ser
ENST00000407332.6:c.488T>C	ENSP00000384457.2:p.Phe163Ser
ENST00000407623.8:c.401T>C	ENSP00000384834.3:p.Phe134Ser
ENST00000438270.2:c.401T>C	ENSP00000403439.2:p.Phe134Ser
ENST00000617178.5:c.7T>C
ENST00000684963.1:n.2210T>C
ENST00000686523.1:c.*419T>C	ENSP00000508940.1:n.*419T>C
ENST00000687183.1:n.531T>C
ENST00000687198.1:c.401T>C	ENSP00000508492.1:p.Phe134Ser
ENST00000688117.1:c.569T>C	ENSP00000509015.1:p.Phe190Ser
ENST00000688244.1:c.333+3200T>C	ENSP00000510355.1:n.333+3200T>C
ENST00000689001.1:n.877T>C
ENST00000689195.1:c.464-293T>C	ENSP00000509895.1:n.464-293T>C
ENST00000689239.1:n.637T>C
ENST00000689795.1:n.632T>C
ENST00000690835.1:c.470T>C	ENSP00000509038.1:p.Phe157Ser
ENST00000690993.1:n.1010T>C
ENST00000691295.1:c.340T>C	ENSP00000508706.1:p.Ser114Pro
ENST00000691918.1:c.449T>C	ENSP00000509525.1:p.Phe150Ser
ENST00000692152.1:c.401T>C	ENSP00000509317.1:p.Phe134Ser
ENST00000692344.1:n.957T>C
ENST00000693363.1:c.470T>C	ENSP00000510411.1:p.Phe157Ser
ENST00000693367.1:c.470T>C	ENSP00000508815.1:p.Phe157Ser
ENST00000693639.1:c.463T>C	ENSP00000510223.1:p.Ser155Pro
ENST00000693646.1:c.376T>C	ENSP00000508449.1:p.Ser126Pro
ENST00000352397.10:c.470T>C MANE Select	ENSP00000338461.6:p.Phe157Ser
ENST00000352397.9:c.470T>C	ENSP00000338461.6:p.Phe157Ser
ENST00000361740.8:c.569T>C	ENSP00000354468.4:p.Phe190Ser
ENST00000402438.5:c.401T>C	ENSP00000385679.1:p.Phe134Ser
ENST00000407332.5:c.401T>C	ENSP00000384457.1:p.Phe134Ser
ENST00000407623.7:c.401T>C	ENSP00000384834.3:p.Phe134Ser
ENST00000438270.1:c.401T>C	ENSP00000403439.1:p.Phe134Ser
ENST00000470741.1:n.2604T>C
NM_000398.6:c.470T>C	NP_000389.1:p.Phe157Ser
NM_001129819.2:c.401T>C	NP_001123291.1:p.Phe134Ser
NM_001171660.1:c.569T>C	NP_001165131.1:p.Phe190Ser
NM_001171661.1:c.401T>C	NP_001165132.1:p.Phe134Ser
NM_007326.4:c.401T>C	NP_015565.1:p.Phe134Ser
NM_000398.7:c.470T>C MANE Select	NP_000389.1:p.Phe157Ser
NM_001171660.2:c.569T>C	NP_001165131.1:p.Phe190Ser