Canonical Allele Identifier: CA411797933

Gene: CYB5R3

Linked Data

• ClinVar Variation Id: 429233
• ClinVar RCV Id: RCV000492877
• dbSNP Id: rs530251354
• gnomAD v2: 22-43023623-C-G
• gnomAD v3: 22-42627617-C-G
• gnomAD v4: 22-42627617-C-G
• MyVariant Identifiers: chr22:g.43023623C>G (hg19) ; chr22:g.42627617C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627617C>G , CM000684.2:g.42627617C>G	GRCh38
NC_000022.10:g.43023623C>G , CM000684.1:g.43023623C>G	GRCh37
NC_000022.9:g.41353567C>G	NCBI36
NG_012194.1:g.26783G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.667G>C	ENSP00000354468.5:p.Ala223Pro
ENST00000402438.6:c.466G>C	ENSP00000385679.1:p.Ala156Pro
ENST00000407332.6:c.553G>C	ENSP00000384457.2:p.Ala185Pro
ENST00000407623.8:c.466G>C	ENSP00000384834.3:p.Ala156Pro
ENST00000438270.2:c.466G>C	ENSP00000403439.2:p.Ala156Pro
ENST00000617178.5:c.72G>C
ENST00000684963.1:n.2275G>C
ENST00000686523.1:c.*484G>C	ENSP00000508940.1:n.*484G>C
ENST00000687183.1:n.596G>C
ENST00000687198.1:c.466G>C	ENSP00000508492.1:p.Ala156Pro
ENST00000688117.1:c.634G>C	ENSP00000509015.1:p.Ala212Pro
ENST00000688244.1:c.333+3265G>C	ENSP00000510355.1:n.333+3265G>C
ENST00000689001.1:n.942G>C
ENST00000689195.1:c.464-228G>C	ENSP00000509895.1:n.464-228G>C
ENST00000689239.1:n.702G>C
ENST00000689795.1:n.697G>C
ENST00000690835.1:c.535G>C	ENSP00000509038.1:p.Ala179Pro
ENST00000690993.1:n.1075G>C
ENST00000691295.1:c.*18G>C	ENSP00000508706.1:n.*18G>C
ENST00000691918.1:c.514G>C	ENSP00000509525.1:p.Ala172Pro
ENST00000692152.1:c.466G>C	ENSP00000509317.1:p.Ala156Pro
ENST00000692344.1:n.1022G>C
ENST00000693363.1:c.535G>C	ENSP00000510411.1:p.Ala179Pro
ENST00000693367.1:c.535G>C	ENSP00000508815.1:p.Ala179Pro
ENST00000693639.1:c.528G>C	ENSP00000510223.1:n.528G>C
ENST00000693646.1:c.441G>C	ENSP00000508449.1:n.441G>C
ENST00000352397.10:c.535G>C MANE Select	ENSP00000338461.6:p.Ala179Pro
ENST00000352397.9:c.535G>C	ENSP00000338461.6:p.Ala179Pro
ENST00000361740.8:c.634G>C	ENSP00000354468.4:p.Ala212Pro
ENST00000402438.5:c.466G>C	ENSP00000385679.1:p.Ala156Pro
ENST00000407332.5:c.466G>C	ENSP00000384457.1:p.Ala156Pro
ENST00000407623.7:c.466G>C	ENSP00000384834.3:p.Ala156Pro
ENST00000470741.1:n.2669G>C
NM_000398.6:c.535G>C	NP_000389.1:p.Ala179Pro
NM_001129819.2:c.466G>C	NP_001123291.1:p.Ala156Pro
NM_001171660.1:c.634G>C	NP_001165131.1:p.Ala212Pro
NM_001171661.1:c.466G>C	NP_001165132.1:p.Ala156Pro
NM_007326.4:c.466G>C	NP_015565.1:p.Ala156Pro
NM_000398.7:c.535G>C MANE Select	NP_000389.1:p.Ala179Pro
NM_001171660.2:c.634G>C	NP_001165131.1:p.Ala212Pro