Canonical Allele Identifier: CA411796457

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1373966975
• gnomAD v2: 22-43019840-A-C
• gnomAD v4: 22-42623834-A-C
• MyVariant Identifiers: chr22:g.43019840A>C (hg19) ; chr22:g.42623834A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623834A>C , CM000684.2:g.42623834A>C	GRCh38
NC_000022.10:g.43019840A>C , CM000684.1:g.43019840A>C	GRCh37
NC_000022.9:g.41349784A>C	NCBI36
NG_012194.1:g.30566T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.820T>G	ENSP00000354468.5:p.Ser274Ala
ENST00000402438.6:c.619T>G	ENSP00000385679.1:p.Ser207Ala
ENST00000407332.6:c.706T>G	ENSP00000384457.2:p.Ser236Ala
ENST00000407623.8:c.619T>G	ENSP00000384834.3:p.Ser207Ala
ENST00000617178.5:c.225T>G
ENST00000684963.1:n.2428T>G
ENST00000685184.1:n.280T>G
ENST00000686523.1:c.*637T>G	ENSP00000508940.1:n.*637T>G
ENST00000687183.1:n.964T>G
ENST00000687198.1:c.619T>G	ENSP00000508492.1:p.Ser207Ala
ENST00000688117.1:c.787T>G	ENSP00000509015.1:p.Ser263Ala
ENST00000688244.1:c.388T>G	ENSP00000510355.1:p.Ser130Ala
ENST00000689001.1:n.1310T>G
ENST00000689195.1:c.604T>G	ENSP00000509895.1:p.Ser202Ala
ENST00000689239.1:n.855T>G
ENST00000689795.1:n.949T>G
ENST00000690835.1:c.*67T>G	ENSP00000509038.1:n.*67T>G
ENST00000690993.1:n.1443T>G
ENST00000691295.1:c.*171T>G	ENSP00000508706.1:n.*171T>G
ENST00000691918.1:c.978T>G	ENSP00000509525.1:n.978T>G
ENST00000692152.1:c.619T>G	ENSP00000509317.1:p.Ser207Ala
ENST00000692344.1:n.1175T>G
ENST00000693363.1:c.730T>G	ENSP00000510411.1:p.Ser244Ala
ENST00000693367.1:c.688T>G	ENSP00000508815.1:p.Ser230Ala
ENST00000693639.1:c.681T>G	ENSP00000510223.1:n.681T>G
ENST00000693646.1:c.594T>G	ENSP00000508449.1:n.594T>G
ENST00000352397.10:c.688T>G MANE Select	ENSP00000338461.6:p.Ser230Ala
ENST00000352397.9:c.688T>G	ENSP00000338461.6:p.Ser230Ala
ENST00000361740.8:c.787T>G	ENSP00000354468.4:p.Ser263Ala
ENST00000402438.5:c.619T>G	ENSP00000385679.1:p.Ser207Ala
ENST00000407332.5:c.619T>G	ENSP00000384457.1:p.Ser207Ala
ENST00000407623.7:c.619T>G	ENSP00000384834.3:p.Ser207Ala
ENST00000470741.1:n.2822T>G
NM_000398.6:c.688T>G	NP_000389.1:p.Ser230Ala
NM_001129819.2:c.619T>G	NP_001123291.1:p.Ser207Ala
NM_001171660.1:c.787T>G	NP_001165131.1:p.Ser263Ala
NM_001171661.1:c.619T>G	NP_001165132.1:p.Ser207Ala
NM_007326.4:c.619T>G	NP_015565.1:p.Ser207Ala
NM_000398.7:c.688T>G MANE Select	NP_000389.1:p.Ser230Ala
NM_001171660.2:c.787T>G	NP_001165131.1:p.Ser263Ala