Canonical Allele Identifier: CA411797710

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43023346A>C (hg19) ; chr22:g.42627340A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627340A>C , CM000684.2:g.42627340A>C	GRCh38
NC_000022.10:g.43023346A>C , CM000684.1:g.43023346A>C	GRCh37
NC_000022.9:g.41353290A>C	NCBI36
NG_012194.1:g.27060T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.729T>G	ENSP00000354468.5:p.Asp243Glu
ENST00000402438.6:c.528T>G	ENSP00000385679.1:p.Asp176Glu
ENST00000407332.6:c.615T>G	ENSP00000384457.2:p.Asp205Glu
ENST00000407623.8:c.528T>G	ENSP00000384834.3:p.Asp176Glu
ENST00000617178.5:c.134T>G
ENST00000684963.1:n.2337T>G
ENST00000686523.1:c.*546T>G	ENSP00000508940.1:n.*546T>G
ENST00000687183.1:n.873T>G
ENST00000687198.1:c.528T>G	ENSP00000508492.1:p.Asp176Glu
ENST00000688117.1:c.696T>G	ENSP00000509015.1:p.Asp232Glu
ENST00000688244.1:c.334-3452T>G	ENSP00000510355.1:n.334-3452T>G
ENST00000689001.1:n.1219T>G
ENST00000689195.1:c.513T>G	ENSP00000509895.1:p.Asp171Glu
ENST00000689239.1:n.764T>G
ENST00000689795.1:n.759T>G
ENST00000690835.1:c.597T>G	ENSP00000509038.1:p.Asp199Glu
ENST00000690993.1:n.1352T>G
ENST00000691295.1:c.*80T>G	ENSP00000508706.1:n.*80T>G
ENST00000691918.1:c.576T>G	ENSP00000509525.1:p.Asp192Glu
ENST00000692152.1:c.528T>G	ENSP00000509317.1:p.Asp176Glu
ENST00000692344.1:n.1084T>G
ENST00000693363.1:c.639T>G	ENSP00000510411.1:p.Asp213Glu
ENST00000693367.1:c.597T>G	ENSP00000508815.1:p.Asp199Glu
ENST00000693639.1:c.590T>G	ENSP00000510223.1:n.590T>G
ENST00000693646.1:c.503T>G	ENSP00000508449.1:n.503T>G
ENST00000352397.10:c.597T>G MANE Select	ENSP00000338461.6:p.Asp199Glu
ENST00000352397.9:c.597T>G	ENSP00000338461.6:p.Asp199Glu
ENST00000361740.8:c.696T>G	ENSP00000354468.4:p.Asp232Glu
ENST00000402438.5:c.528T>G	ENSP00000385679.1:p.Asp176Glu
ENST00000407332.5:c.528T>G	ENSP00000384457.1:p.Asp176Glu
ENST00000407623.7:c.528T>G	ENSP00000384834.3:p.Asp176Glu
ENST00000470741.1:n.2731T>G
NM_000398.6:c.597T>G	NP_000389.1:p.Asp199Glu
NM_001129819.2:c.528T>G	NP_001123291.1:p.Asp176Glu
NM_001171660.1:c.696T>G	NP_001165131.1:p.Asp232Glu
NM_001171661.1:c.528T>G	NP_001165132.1:p.Asp176Glu
NM_007326.4:c.528T>G	NP_015565.1:p.Asp176Glu
NM_000398.7:c.597T>G MANE Select	NP_000389.1:p.Asp199Glu
NM_001171660.2:c.696T>G	NP_001165131.1:p.Asp232Glu