Canonical Allele Identifier: CA10269647

Gene: CYB5R3

Linked Data

• dbSNP Id: rs761424072
• ExAC: 22:43023352 G / T
• gnomAD v2: 22-43023352-G-T
• gnomAD v3: 22-42627346-G-T
• gnomAD v4: 22-42627346-G-T
• MyVariant Identifiers: chr22:g.43023352G>T (hg19) ; chr22:g.42627346G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627346G>T , CM000684.2:g.42627346G>T	GRCh38
NC_000022.10:g.43023352G>T , CM000684.1:g.43023352G>T	GRCh37
NC_000022.9:g.41353296G>T	NCBI36
NG_012194.1:g.27054C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.723C>A	ENSP00000354468.5:p.Asp241Glu
ENST00000402438.6:c.522C>A	ENSP00000385679.1:p.Asp174Glu
ENST00000407332.6:c.609C>A	ENSP00000384457.2:p.Asp203Glu
ENST00000407623.8:c.522C>A	ENSP00000384834.3:p.Asp174Glu
ENST00000617178.5:c.128C>A
ENST00000684963.1:n.2331C>A
ENST00000686523.1:c.*540C>A	ENSP00000508940.1:n.*540C>A
ENST00000687183.1:n.867C>A
ENST00000687198.1:c.522C>A	ENSP00000508492.1:p.Asp174Glu
ENST00000688117.1:c.690C>A	ENSP00000509015.1:p.Asp230Glu
ENST00000688244.1:c.334-3458C>A	ENSP00000510355.1:n.334-3458C>A
ENST00000689001.1:n.1213C>A
ENST00000689195.1:c.507C>A	ENSP00000509895.1:p.Asp169Glu
ENST00000689239.1:n.758C>A
ENST00000689795.1:n.753C>A
ENST00000690835.1:c.591C>A	ENSP00000509038.1:p.Asp197Glu
ENST00000690993.1:n.1346C>A
ENST00000691295.1:c.*74C>A	ENSP00000508706.1:n.*74C>A
ENST00000691918.1:c.570C>A	ENSP00000509525.1:p.Asp190Glu
ENST00000692152.1:c.522C>A	ENSP00000509317.1:p.Asp174Glu
ENST00000692344.1:n.1078C>A
ENST00000693363.1:c.633C>A	ENSP00000510411.1:p.Asp211Glu
ENST00000693367.1:c.591C>A	ENSP00000508815.1:p.Asp197Glu
ENST00000693639.1:c.584C>A	ENSP00000510223.1:n.584C>A
ENST00000693646.1:c.497C>A	ENSP00000508449.1:n.497C>A
ENST00000352397.10:c.591C>A MANE Select	ENSP00000338461.6:p.Asp197Glu
ENST00000352397.9:c.591C>A	ENSP00000338461.6:p.Asp197Glu
ENST00000361740.8:c.690C>A	ENSP00000354468.4:p.Asp230Glu
ENST00000402438.5:c.522C>A	ENSP00000385679.1:p.Asp174Glu
ENST00000407332.5:c.522C>A	ENSP00000384457.1:p.Asp174Glu
ENST00000407623.7:c.522C>A	ENSP00000384834.3:p.Asp174Glu
ENST00000470741.1:n.2725C>A
NM_000398.6:c.591C>A	NP_000389.1:p.Asp197Glu
NM_001129819.2:c.522C>A	NP_001123291.1:p.Asp174Glu
NM_001171660.1:c.690C>A	NP_001165131.1:p.Asp230Glu
NM_001171661.1:c.522C>A	NP_001165132.1:p.Asp174Glu
NM_007326.4:c.522C>A	NP_015565.1:p.Asp174Glu
NM_000398.7:c.591C>A MANE Select	NP_000389.1:p.Asp197Glu
NM_001171660.2:c.690C>A	NP_001165131.1:p.Asp230Glu