Canonical Allele Identifier: CA411797739

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1482698412
• gnomAD v2: 22-43023353-T-G
• gnomAD v4: 22-42627347-T-G
• MyVariant Identifiers: chr22:g.43023353T>G (hg19) ; chr22:g.42627347T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627347T>G , CM000684.2:g.42627347T>G	GRCh38
NC_000022.10:g.43023353T>G , CM000684.1:g.43023353T>G	GRCh37
NC_000022.9:g.41353297T>G	NCBI36
NG_012194.1:g.27053A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.722A>C	ENSP00000354468.5:p.Asp241Ala
ENST00000402438.6:c.521A>C	ENSP00000385679.1:p.Asp174Ala
ENST00000407332.6:c.608A>C	ENSP00000384457.2:p.Asp203Ala
ENST00000407623.8:c.521A>C	ENSP00000384834.3:p.Asp174Ala
ENST00000617178.5:c.127A>C
ENST00000684963.1:n.2330A>C
ENST00000686523.1:c.*539A>C	ENSP00000508940.1:n.*539A>C
ENST00000687183.1:n.866A>C
ENST00000687198.1:c.521A>C	ENSP00000508492.1:p.Asp174Ala
ENST00000688117.1:c.689A>C	ENSP00000509015.1:p.Asp230Ala
ENST00000688244.1:c.334-3459A>C	ENSP00000510355.1:n.334-3459A>C
ENST00000689001.1:n.1212A>C
ENST00000689195.1:c.506A>C	ENSP00000509895.1:p.Asp169Ala
ENST00000689239.1:n.757A>C
ENST00000689795.1:n.752A>C
ENST00000690835.1:c.590A>C	ENSP00000509038.1:p.Asp197Ala
ENST00000690993.1:n.1345A>C
ENST00000691295.1:c.*73A>C	ENSP00000508706.1:n.*73A>C
ENST00000691918.1:c.569A>C	ENSP00000509525.1:p.Asp190Ala
ENST00000692152.1:c.521A>C	ENSP00000509317.1:p.Asp174Ala
ENST00000692344.1:n.1077A>C
ENST00000693363.1:c.632A>C	ENSP00000510411.1:p.Asp211Ala
ENST00000693367.1:c.590A>C	ENSP00000508815.1:p.Asp197Ala
ENST00000693639.1:c.583A>C	ENSP00000510223.1:n.583A>C
ENST00000693646.1:c.496A>C	ENSP00000508449.1:n.496A>C
ENST00000352397.10:c.590A>C MANE Select	ENSP00000338461.6:p.Asp197Ala
ENST00000352397.9:c.590A>C	ENSP00000338461.6:p.Asp197Ala
ENST00000361740.8:c.689A>C	ENSP00000354468.4:p.Asp230Ala
ENST00000402438.5:c.521A>C	ENSP00000385679.1:p.Asp174Ala
ENST00000407332.5:c.521A>C	ENSP00000384457.1:p.Asp174Ala
ENST00000407623.7:c.521A>C	ENSP00000384834.3:p.Asp174Ala
ENST00000470741.1:n.2724A>C
NM_000398.6:c.590A>C	NP_000389.1:p.Asp197Ala
NM_001129819.2:c.521A>C	NP_001123291.1:p.Asp174Ala
NM_001171660.1:c.689A>C	NP_001165131.1:p.Asp230Ala
NM_001171661.1:c.521A>C	NP_001165132.1:p.Asp174Ala
NM_007326.4:c.521A>C	NP_015565.1:p.Asp174Ala
NM_000398.7:c.590A>C MANE Select	NP_000389.1:p.Asp197Ala
NM_001171660.2:c.689A>C	NP_001165131.1:p.Asp230Ala