Canonical Allele Identifier: CA514814263
Gene: CYB5R3 HGNC NCBI

Linked Data

dbSNP Id: rs1928326834
MyVariant Identifiers: chr22:g.43023346A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000361740.9:c.729T>C ENSP00000354468.5:p.Asp243=
ENST00000402438.6:c.528T>C ENSP00000385679.1:p.Asp176=
ENST00000407332.6:c.615T>C ENSP00000384457.2:p.Asp205=
ENST00000407623.8:c.528T>C ENSP00000384834.3:p.Asp176=
ENST00000617178.5:c.134T>C
ENST00000684963.1:n.2337T>C
ENST00000686523.1:c.*546T>C ENSP00000508940.1:n.*546T>C
ENST00000687183.1:n.873T>C
ENST00000687198.1:c.528T>C ENSP00000508492.1:p.Asp176=
ENST00000688117.1:c.696T>C ENSP00000509015.1:p.Asp232=
ENST00000688244.1:c.334-3452T>C ENSP00000510355.1:n.334-3452T>C
ENST00000689001.1:n.1219T>C
ENST00000689195.1:c.513T>C ENSP00000509895.1:p.Asp171=
ENST00000689239.1:n.764T>C
ENST00000689795.1:n.759T>C
ENST00000690835.1:c.597T>C ENSP00000509038.1:p.Asp199=
ENST00000690993.1:n.1352T>C
ENST00000691295.1:c.*80T>C ENSP00000508706.1:n.*80T>C
ENST00000691918.1:c.576T>C ENSP00000509525.1:p.Asp192=
ENST00000692152.1:c.528T>C ENSP00000509317.1:p.Asp176=
ENST00000692344.1:n.1084T>C
ENST00000693363.1:c.639T>C ENSP00000510411.1:p.Asp213=
ENST00000693367.1:c.597T>C ENSP00000508815.1:p.Asp199=
ENST00000693639.1:c.590T>C ENSP00000510223.1:n.590T>C
ENST00000693646.1:c.503T>C ENSP00000508449.1:n.503T>C
ENST00000352397.10:c.597T>C MANE Select ENSP00000338461.6:p.Asp199=
ENST00000352397.9:c.597T>C ENSP00000338461.6:p.Asp199=
ENST00000361740.8:c.696T>C ENSP00000354468.4:p.Asp232=
ENST00000402438.5:c.528T>C ENSP00000385679.1:p.Asp176=
ENST00000407332.5:c.528T>C ENSP00000384457.1:p.Asp176=
ENST00000407623.7:c.528T>C ENSP00000384834.3:p.Asp176=
ENST00000470741.1:n.2731T>C
NM_000398.6:c.597T>C NP_000389.1:p.Asp199=
NM_001129819.2:c.528T>C NP_001123291.1:p.Asp176=
NM_001171660.1:c.696T>C NP_001165131.1:p.Asp232=
NM_001171661.1:c.528T>C NP_001165132.1:p.Asp176=
NM_007326.4:c.528T>C NP_015565.1:p.Asp176=
NM_000398.7:c.597T>C MANE Select NP_000389.1:p.Asp199=
NM_001171660.2:c.696T>C NP_001165131.1:p.Asp232=