Canonical Allele Identifier: CA411798568

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42627685-T-A
• MyVariant Identifiers: chr22:g.43023691T>A (hg19) ; chr22:g.42627685T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627685T>A , CM000684.2:g.42627685T>A	GRCh38
NC_000022.10:g.43023691T>A , CM000684.1:g.43023691T>A	GRCh37
NC_000022.9:g.41353635T>A	NCBI36
NG_012194.1:g.26715A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.599A>T	ENSP00000354468.5:p.Lys200Met
ENST00000402438.6:c.398A>T	ENSP00000385679.1:p.Lys133Met
ENST00000407332.6:c.485A>T	ENSP00000384457.2:p.Lys162Met
ENST00000407623.8:c.398A>T	ENSP00000384834.3:p.Lys133Met
ENST00000438270.2:c.398A>T	ENSP00000403439.2:p.Lys133Met
ENST00000617178.5:c.4A>T
ENST00000684963.1:n.2207A>T
ENST00000686523.1:c.*416A>T	ENSP00000508940.1:n.*416A>T
ENST00000687183.1:n.528A>T
ENST00000687198.1:c.398A>T	ENSP00000508492.1:p.Lys133Met
ENST00000688117.1:c.566A>T	ENSP00000509015.1:p.Lys189Met
ENST00000688244.1:c.333+3197A>T	ENSP00000510355.1:n.333+3197A>T
ENST00000689001.1:n.874A>T
ENST00000689195.1:c.464-296A>T	ENSP00000509895.1:n.464-296A>T
ENST00000689239.1:n.634A>T
ENST00000689795.1:n.629A>T
ENST00000690835.1:c.467A>T	ENSP00000509038.1:p.Lys156Met
ENST00000690993.1:n.1007A>T
ENST00000691295.1:c.337A>T	ENSP00000508706.1:p.Ser113Cys
ENST00000691918.1:c.446A>T	ENSP00000509525.1:p.Lys149Met
ENST00000692152.1:c.398A>T	ENSP00000509317.1:p.Lys133Met
ENST00000692344.1:n.954A>T
ENST00000693363.1:c.467A>T	ENSP00000510411.1:p.Lys156Met
ENST00000693367.1:c.467A>T	ENSP00000508815.1:p.Lys156Met
ENST00000693639.1:c.460A>T	ENSP00000510223.1:p.Ser154Cys
ENST00000693646.1:c.373A>T	ENSP00000508449.1:p.Ser125Cys
ENST00000352397.10:c.467A>T MANE Select	ENSP00000338461.6:p.Lys156Met
ENST00000352397.9:c.467A>T	ENSP00000338461.6:p.Lys156Met
ENST00000361740.8:c.566A>T	ENSP00000354468.4:p.Lys189Met
ENST00000402438.5:c.398A>T	ENSP00000385679.1:p.Lys133Met
ENST00000407332.5:c.398A>T	ENSP00000384457.1:p.Lys133Met
ENST00000407623.7:c.398A>T	ENSP00000384834.3:p.Lys133Met
ENST00000438270.1:c.398A>T	ENSP00000403439.1:p.Lys133Met
ENST00000470741.1:n.2601A>T
NM_000398.6:c.467A>T	NP_000389.1:p.Lys156Met
NM_001129819.2:c.398A>T	NP_001123291.1:p.Lys133Met
NM_001171660.1:c.566A>T	NP_001165131.1:p.Lys189Met
NM_001171661.1:c.398A>T	NP_001165132.1:p.Lys133Met
NM_007326.4:c.398A>T	NP_015565.1:p.Lys133Met
NM_000398.7:c.467A>T MANE Select	NP_000389.1:p.Lys156Met
NM_001171660.2:c.566A>T	NP_001165131.1:p.Lys189Met