Canonical Allele Identifier: CA10269707

Gene: CYB5R3

Linked Data

• ClinVar Variation Id: 1915912
• ClinVar RCV Id: RCV002594185
• dbSNP Id: rs185699190
• ExAC: 22:43023599 G / T
• gnomAD v2: 22-43023599-G-T
• gnomAD v3: 22-42627593-G-T
• gnomAD v4: 22-42627593-G-T
• MyVariant Identifiers: chr22:g.43023599G>T (hg19) ; chr22:g.42627593G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627593G>T , CM000684.2:g.42627593G>T	GRCh38
NC_000022.10:g.43023599G>T , CM000684.1:g.43023599G>T	GRCh37
NC_000022.9:g.41353543G>T	NCBI36
NG_012194.1:g.26807C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.679+12C>A	ENSP00000354468.5:n.679+12C>A
ENST00000402438.6:c.478+12C>A	ENSP00000385679.1:n.478+12C>A
ENST00000407332.6:c.565+12C>A	ENSP00000384457.2:n.565+12C>A
ENST00000407623.8:c.478+12C>A	ENSP00000384834.3:n.478+12C>A
ENST00000617178.5:c.84+12C>A
ENST00000684963.1:n.2287+12C>A
ENST00000686523.1:c.*496+12C>A	ENSP00000508940.1:n.*496+12C>A
ENST00000687183.1:n.620C>A
ENST00000687198.1:c.478+12C>A	ENSP00000508492.1:n.478+12C>A
ENST00000688117.1:c.646+12C>A	ENSP00000509015.1:n.646+12C>A
ENST00000688244.1:c.333+3289C>A	ENSP00000510355.1:n.333+3289C>A
ENST00000689001.1:n.966C>A
ENST00000689195.1:c.464-204C>A	ENSP00000509895.1:n.464-204C>A
ENST00000689239.1:n.714+12C>A
ENST00000689795.1:n.709+12C>A
ENST00000690835.1:c.547+12C>A	ENSP00000509038.1:n.547+12C>A
ENST00000690993.1:n.1099C>A
ENST00000691295.1:c.*30+12C>A	ENSP00000508706.1:n.*30+12C>A
ENST00000691918.1:c.526+12C>A	ENSP00000509525.1:n.526+12C>A
ENST00000692152.1:c.478+12C>A	ENSP00000509317.1:n.478+12C>A
ENST00000692344.1:n.1034+12C>A
ENST00000693363.1:c.547+12C>A	ENSP00000510411.1:n.547+12C>A
ENST00000693367.1:c.547+12C>A	ENSP00000508815.1:n.547+12C>A
ENST00000693639.1:c.540+12C>A	ENSP00000510223.1:n.540+12C>A
ENST00000693646.1:c.453+12C>A	ENSP00000508449.1:n.453+12C>A
ENST00000352397.10:c.547+12C>A MANE Select	ENSP00000338461.6:n.547+12C>A
ENST00000352397.9:c.547+12C>A	ENSP00000338461.6:n.547+12C>A
ENST00000361740.8:c.646+12C>A	ENSP00000354468.4:n.646+12C>A
ENST00000402438.5:c.478+12C>A	ENSP00000385679.1:n.478+12C>A
ENST00000407332.5:c.478+12C>A	ENSP00000384457.1:n.478+12C>A
ENST00000407623.7:c.478+12C>A	ENSP00000384834.3:n.478+12C>A
ENST00000470741.1:n.2681+12C>A
NM_000398.6:c.547+12C>A	NP_000389.1:n.547+12C>A
NM_001129819.2:c.478+12C>A	NP_001123291.1:n.478+12C>A
NM_001171660.1:c.646+12C>A	NP_001165131.1:n.646+12C>A
NM_001171661.1:c.478+12C>A	NP_001165132.1:n.478+12C>A
NM_007326.4:c.478+12C>A	NP_015565.1:n.478+12C>A
NM_000398.7:c.547+12C>A MANE Select	NP_000389.1:n.547+12C>A
NM_001171660.2:c.646+12C>A	NP_001165131.1:n.646+12C>A