Canonical Allele Identifier: CA514812861

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623832-A-G
• MyVariant Identifiers: chr22:g.43019838A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623832A>G , CM000684.2:g.42623832A>G	GRCh38
NC_000022.10:g.43019838A>G , CM000684.1:g.43019838A>G	GRCh37
NC_000022.9:g.41349782A>G	NCBI36
NG_012194.1:g.30568T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.822T>C	ENSP00000354468.5:p.Ser274=
ENST00000402438.6:c.621T>C	ENSP00000385679.1:p.Ser207=
ENST00000407332.6:c.708T>C	ENSP00000384457.2:p.Ser236=
ENST00000407623.8:c.621T>C	ENSP00000384834.3:p.Ser207=
ENST00000617178.5:c.227T>C
ENST00000684963.1:n.2430T>C
ENST00000685184.1:n.282T>C
ENST00000686523.1:c.*639T>C	ENSP00000508940.1:n.*639T>C
ENST00000687183.1:n.966T>C
ENST00000687198.1:c.621T>C	ENSP00000508492.1:p.Ser207=
ENST00000688117.1:c.789T>C	ENSP00000509015.1:p.Ser263=
ENST00000688244.1:c.390T>C	ENSP00000510355.1:p.Ser130=
ENST00000689001.1:n.1312T>C
ENST00000689195.1:c.606T>C	ENSP00000509895.1:p.Ser202=
ENST00000689239.1:n.857T>C
ENST00000689795.1:n.951T>C
ENST00000690835.1:c.*69T>C	ENSP00000509038.1:n.*69T>C
ENST00000690993.1:n.1445T>C
ENST00000691295.1:c.*173T>C	ENSP00000508706.1:n.*173T>C
ENST00000691918.1:c.980T>C	ENSP00000509525.1:n.980T>C
ENST00000692152.1:c.621T>C	ENSP00000509317.1:p.Ser207=
ENST00000692344.1:n.1177T>C
ENST00000693363.1:c.732T>C	ENSP00000510411.1:p.Ser244=
ENST00000693367.1:c.690T>C	ENSP00000508815.1:p.Ser230=
ENST00000693639.1:c.683T>C	ENSP00000510223.1:n.683T>C
ENST00000693646.1:c.596T>C	ENSP00000508449.1:n.596T>C
ENST00000352397.10:c.690T>C MANE Select	ENSP00000338461.6:p.Ser230=
ENST00000352397.9:c.690T>C	ENSP00000338461.6:p.Ser230=
ENST00000361740.8:c.789T>C	ENSP00000354468.4:p.Ser263=
ENST00000402438.5:c.621T>C	ENSP00000385679.1:p.Ser207=
ENST00000407332.5:c.621T>C	ENSP00000384457.1:p.Ser207=
ENST00000407623.7:c.621T>C	ENSP00000384834.3:p.Ser207=
ENST00000470741.1:n.2824T>C
NM_000398.6:c.690T>C	NP_000389.1:p.Ser230=
NM_001129819.2:c.621T>C	NP_001123291.1:p.Ser207=
NM_001171660.1:c.789T>C	NP_001165131.1:p.Ser263=
NM_001171661.1:c.621T>C	NP_001165132.1:p.Ser207=
NM_007326.4:c.621T>C	NP_015565.1:p.Ser207=
NM_000398.7:c.690T>C MANE Select	NP_000389.1:p.Ser230=
NM_001171660.2:c.789T>C	NP_001165131.1:p.Ser263=