Canonical Allele Identifier: CA411796471

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623836-T-C
• MyVariant Identifiers: chr22:g.43019842T>C (hg19) ; chr22:g.42623836T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623836T>C , CM000684.2:g.42623836T>C	GRCh38
NC_000022.10:g.43019842T>C , CM000684.1:g.43019842T>C	GRCh37
NC_000022.9:g.41349786T>C	NCBI36
NG_012194.1:g.30564A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.818A>G	ENSP00000354468.5:p.His273Arg
ENST00000402438.6:c.617A>G	ENSP00000385679.1:p.His206Arg
ENST00000407332.6:c.704A>G	ENSP00000384457.2:p.His235Arg
ENST00000407623.8:c.617A>G	ENSP00000384834.3:p.His206Arg
ENST00000617178.5:c.223A>G
ENST00000684963.1:n.2426A>G
ENST00000685184.1:n.278A>G
ENST00000686523.1:c.*635A>G	ENSP00000508940.1:n.*635A>G
ENST00000687183.1:n.962A>G
ENST00000687198.1:c.617A>G	ENSP00000508492.1:p.His206Arg
ENST00000688117.1:c.785A>G	ENSP00000509015.1:p.His262Arg
ENST00000688244.1:c.386A>G	ENSP00000510355.1:p.His129Arg
ENST00000689001.1:n.1308A>G
ENST00000689195.1:c.602A>G	ENSP00000509895.1:p.His201Arg
ENST00000689239.1:n.853A>G
ENST00000689795.1:n.947A>G
ENST00000690835.1:c.*65A>G	ENSP00000509038.1:n.*65A>G
ENST00000690993.1:n.1441A>G
ENST00000691295.1:c.*169A>G	ENSP00000508706.1:n.*169A>G
ENST00000691918.1:c.976A>G	ENSP00000509525.1:n.976A>G
ENST00000692152.1:c.617A>G	ENSP00000509317.1:p.His206Arg
ENST00000692344.1:n.1173A>G
ENST00000693363.1:c.728A>G	ENSP00000510411.1:p.His243Arg
ENST00000693367.1:c.686A>G	ENSP00000508815.1:p.His229Arg
ENST00000693639.1:c.679A>G	ENSP00000510223.1:n.679A>G
ENST00000693646.1:c.592A>G	ENSP00000508449.1:n.592A>G
ENST00000352397.10:c.686A>G MANE Select	ENSP00000338461.6:p.His229Arg
ENST00000352397.9:c.686A>G	ENSP00000338461.6:p.His229Arg
ENST00000361740.8:c.785A>G	ENSP00000354468.4:p.His262Arg
ENST00000402438.5:c.617A>G	ENSP00000385679.1:p.His206Arg
ENST00000407332.5:c.617A>G	ENSP00000384457.1:p.His206Arg
ENST00000407623.7:c.617A>G	ENSP00000384834.3:p.His206Arg
ENST00000470741.1:n.2820A>G
NM_000398.6:c.686A>G	NP_000389.1:p.His229Arg
NM_001129819.2:c.617A>G	NP_001123291.1:p.His206Arg
NM_001171660.1:c.785A>G	NP_001165131.1:p.His262Arg
NM_001171661.1:c.617A>G	NP_001165132.1:p.His206Arg
NM_007326.4:c.617A>G	NP_015565.1:p.His206Arg
NM_000398.7:c.686A>G MANE Select	NP_000389.1:p.His229Arg
NM_001171660.2:c.785A>G	NP_001165131.1:p.His262Arg