Canonical Allele Identifier: CA411796473

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019842T>G (hg19) ; chr22:g.42623836T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.818A>C	ENSP00000354468.5:p.His273Pro
ENST00000402438.6:c.617A>C	ENSP00000385679.1:p.His206Pro
ENST00000407332.6:c.704A>C	ENSP00000384457.2:p.His235Pro
ENST00000407623.8:c.617A>C	ENSP00000384834.3:p.His206Pro
ENST00000617178.5:c.223A>C
ENST00000684963.1:n.2426A>C
ENST00000685184.1:n.278A>C
ENST00000686523.1:c.*635A>C	ENSP00000508940.1:n.*635A>C
ENST00000687183.1:n.962A>C
ENST00000687198.1:c.617A>C	ENSP00000508492.1:p.His206Pro
ENST00000688117.1:c.785A>C	ENSP00000509015.1:p.His262Pro
ENST00000688244.1:c.386A>C	ENSP00000510355.1:p.His129Pro
ENST00000689001.1:n.1308A>C
ENST00000689195.1:c.602A>C	ENSP00000509895.1:p.His201Pro
ENST00000689239.1:n.853A>C
ENST00000689795.1:n.947A>C
ENST00000690835.1:c.*65A>C	ENSP00000509038.1:n.*65A>C
ENST00000690993.1:n.1441A>C
ENST00000691295.1:c.*169A>C	ENSP00000508706.1:n.*169A>C
ENST00000691918.1:c.976A>C	ENSP00000509525.1:n.976A>C
ENST00000692152.1:c.617A>C	ENSP00000509317.1:p.His206Pro
ENST00000692344.1:n.1173A>C
ENST00000693363.1:c.728A>C	ENSP00000510411.1:p.His243Pro
ENST00000693367.1:c.686A>C	ENSP00000508815.1:p.His229Pro
ENST00000693639.1:c.679A>C	ENSP00000510223.1:n.679A>C
ENST00000693646.1:c.592A>C	ENSP00000508449.1:n.592A>C
ENST00000352397.10:c.686A>C MANE Select	ENSP00000338461.6:p.His229Pro
ENST00000352397.9:c.686A>C	ENSP00000338461.6:p.His229Pro
ENST00000361740.8:c.785A>C	ENSP00000354468.4:p.His262Pro
ENST00000402438.5:c.617A>C	ENSP00000385679.1:p.His206Pro
ENST00000407332.5:c.617A>C	ENSP00000384457.1:p.His206Pro
ENST00000407623.7:c.617A>C	ENSP00000384834.3:p.His206Pro
ENST00000470741.1:n.2820A>C
NM_000398.6:c.686A>C	NP_000389.1:p.His229Pro
NM_001129819.2:c.617A>C	NP_001123291.1:p.His206Pro
NM_001171660.1:c.785A>C	NP_001165131.1:p.His262Pro
NM_001171661.1:c.617A>C	NP_001165132.1:p.His206Pro
NM_007326.4:c.617A>C	NP_015565.1:p.His206Pro
NM_000398.7:c.686A>C MANE Select	NP_000389.1:p.His229Pro
NM_001171660.2:c.785A>C	NP_001165131.1:p.His262Pro